{"Name":"Hyperinsulinemic hypoglycemia, familial, 4","DiseaseID__c":"GARD:0009870","id":9870,"encodedName":"hyperinsulinemic-hypoglycemia-familial-4","IsDeleted":false,"Disease_Name_Full__c":"Hyperinsulinemic hypoglycemia, familial, 4","Xref_IDs__c":"721236002; C1864948; C566493; DOID:0070215; MEDGEN:400646; MONDO:0012382; OMIM:609975; ORPHA:71212","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0012382","Disease_Description__c":"Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the HADH gene.","GARD_Name__c":"Hyperinsulinemic hypoglycemia, familial, 4","GARD_Synonym__c":"hadh hyperinsulinemic hypoglycemia (disease); hadh-related hyperinsulinism; hhf4; hyperinsulinemic hypoglycemia (disease) caused by mutation in hadh; hyperinsulinemic hypoglycemia due to hadh deficiency; hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency; hyperinsulinemic hypoglycemia, familial, type 4; hyperinsulinism due to glutamodehydrogenase deficiency; hyperinsulinism due to schad deficiency; hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency; hyperinsulinism due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency; schad deficiency","Curated_Disease_Description_Source__c":"MEDGEN:C1864948","Curated_Disease_Description__c":"Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency is a genetic condition that prevents the body from converting certain fats into energy. This causes sensitivity to insulin and hypoglycemia (low blood sugar levels). This condition is known by several names, including \"HADH deficiency\" and \"Hyperinsulinism due to HADH deficiency.\" Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency is caused by harmful changes (mutations or pathogenic variants) in both copies of the HADH gene. This type of inheritance is called autosomal recessive inheritance. Severity and when the signs and symptoms of the condition first begin (known as \"onset\") varies. It usually begins in infancy (shortly after birth) or early childhood. The signs and symptoms often start with poor appetite, vomiting, diarrhea, and lack of energy (lethargy). People with hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency may also have muscle weakness (hypotonia), liver problems, low blood glucose (hypoglycemia), and high levels of insulin (hyperinsulinism). Additional complications can include seizures, life-threatening heart and breathing problems, coma, and sudden (unexpected) death. The health problems related to this condition can be triggered by periods of fasting or by illnesses such as viral infections.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:71212","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012382","ORPHANET_ID__c":"ORPHA:71212","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hiperinsulinismo por deficiencia de 3-hidroxilacil-coa deshidrogenasa de cadena corta","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"hiperinsulinismo por deficiencia de 3-hidroxilacil-coa deshidrogenasa de cadena corta","Spanish_GARD_Synonym__c":"deficiencia de hadh; deficiencia de schad; hiperinsulinismo por deficiencia de glutamodeshidrogenasa; hiperinsulinismo por deficiencia de hadh; hiperinsulinismo por deficiencia de schad; hipoglucemia hiperinsulinémica por deficiencia de 3-hidroxilacil-coa deshidrogenasa de cadena corta","Category_Linearization__c":"ORPHA:68367","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency is a genetic condition that prevents the body from converting certain fats into energy. This causes sensitivity to insulin and hypoglycemia (low blood sugar levels). This condition is known by several names, including \"HADH deficiency\" and \"Hyperinsulinism due to HADH deficiency.\" Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency is caused by harmful changes (mutations or pathogenic variants) in both copies of the HADH gene. This type of inheritance is called autosomal recessive inheritance. Severity and when the signs and symptoms of the condition first begin (known as \"onset\") varies. It usually begins in infancy (shortly after birth) or early childhood. The signs and symptoms often start with poor appetite, vomiting, diarrhea, and lack of energy (lethargy). People with hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency may also have muscle weakness (hypotonia), liver problems, low blood glucose (hypoglycemia), and high levels of insulin (hyperinsulinism). Additional complications can include seizures, life-threatening heart and breathing problems, coma, and sudden (unexpected) death. The health problems related to this condition can be triggered by periods of fasting or by illnesses such as viral infections.","Curated_Disease_Description_Source__c":"MEDGEN:C1864948","GARD_Synonym__c":"hadh hyperinsulinemic hypoglycemia (disease); hadh-related hyperinsulinism; hhf4; hyperinsulinemic hypoglycemia (disease) caused by mutation in hadh; hyperinsulinemic hypoglycemia due to hadh deficiency; hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency; hyperinsulinemic hypoglycemia, familial, type 4; hyperinsulinism due to glutamodehydrogenase deficiency; hyperinsulinism due to schad deficiency; hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency; hyperinsulinism due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency; schad deficiency","Name":"Hyperinsulinemic hypoglycemia, familial, 4","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"FOD (Fatty Oxidation Disorder) Family Support Group","Website__c":"https://fodsupport.org/"},{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"Congenital Hyperinsulinism International","Website__c":"https://congenitalhi.org/"},{"Account_Name__c":"MitoAction","Website__c":"https://www.mitoaction.org/"},{"Account_Name__c":"United Mitochondrial Disease Foundation","Website__c":"https://www.umdf.org"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:71212"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:71212"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Secondary","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/SCHAD"},{"Type__c":"GTR","Curie__c":"MEDGEN:C1864948"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009870","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1375","Source__c":"Gene Review","Xref__c":"NBK1375"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=400646","Source__c":"C1864948","Xref__c":"MEDGEN:400646"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566493","Source__c":"MONDO:0012382","Xref__c":"C566493"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070215","Source__c":"MONDO:0012382","Xref__c":"DOID:0070215"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=721236002","Source__c":"MONDO:0012382","Xref__c":"721236002"},{"URL__c":"https://www.orpha.net/en/disease/detail/71212","Source__c":"C1864948; MONDO:0012382","Xref__c":"ORPHA:71212"},{"URL__c":"https://www.omim.org/entry/609975","Source__c":"C1864948; MONDO:0012382; ORPHA:71212","Xref__c":"OMIM:609975"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1864948","Source__c":"C1864948","Xref__c":"C1864948"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012382","Source__c":"GARD:0009870","Xref__c":"MONDO:0012382"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HADH","GHR_URL__c":"https://medlineplus.gov/genetics/gene/hadh","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:71212","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001511","HPO_Synonym__c":"Fetal growth restriction; FGR; In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant","HPO_Name__c":"Intrauterine growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71212","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001319","HPO_Synonym__c":"Hypotonia, in neonatal onset; Hypotonia, neonatal; Low muscle tone, in neonatal onset","HPO_Name__c":"Neonatal hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71212","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Brain damage related to a lowering of blood glucose below a critical level (around 30 mg/dl), which may lead to confusion, lethargy and delirium followed by seizures and coma. Prolonged hypoglycemia may lead to irreversible brain damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006929","HPO_Name__c":"Hypoglycemic encephalopathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71212","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001657","HPO_Synonym__c":"Long QT syndrome; Prolong qt interval on ekg","HPO_Name__c":"Prolonged QT interval","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Procedure_EKG"}},{"Provided_By__c":"ORPHA:71212","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003128","HPO_Synonym__c":"Hyperlacticacidemia; Increased lactate in body; Lactic acidemia; Lacticacidemia; Lacticacidosis","HPO_Name__c":"Lactic acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:71212","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71212","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71212","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An elevated concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with increased insulin secretion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030796","HPO_Synonym__c":"Increased C peptide level","HPO_Name__c":"Increased C-peptide level","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:71212","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008283","HPO_Synonym__c":"High blood insulin levels while fasting","HPO_Name__c":"Fasting hyperinsulinemia","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:71212","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001639","HPO_Synonym__c":"Cardiomyopathy, hypertrophic; Enlarged and thickened heart muscle; HCM","HPO_Name__c":"Hypertrophic cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71212","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Lack of clarity and coherence of thought, perception, understanding, or action.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001289","HPO_Synonym__c":"Confusion; Disorientation; Easily confused; Mental disorientation","HPO_Name__c":"Confusion","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71212","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100950","HPO_Name__c":"Decreased 3-hydroxyacyl-CoA dehydrogenase level","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:71212","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009830","HPO_Synonym__c":"Peripheral nerve damage; Peripheral neuritis","HPO_Name__c":"Peripheral neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71212","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001985","HPO_Synonym__c":"Hypoglycemia, hypoketotic","HPO_Name__c":"Hypoketotic hypoglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:71212","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of dicarboxylic acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003215","HPO_Synonym__c":"Elevated urinary dicarboxylic acid level","HPO_Name__c":"Dicarboxylic aciduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:71212","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001644","HPO_Synonym__c":"Cardiomyopathy, dilated; Congestive cardiomyopathy; DCM; Stretched and thinned heart muscle","HPO_Name__c":"Dilated cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71212","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A kind of short stature in which different regions of the body are shortened to a comparable extent.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003508","HPO_Synonym__c":"Proportionate small stature; Short stature, proportionate","HPO_Name__c":"Proportionate short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71212","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of insulin combined with a decreased concentration of glucose in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000825","HPO_Synonym__c":"Hyperinsulinaemic hypoglycaemia; Hyperinsulinemia hypoglycemia","HPO_Name__c":"Hyperinsulinemic hypoglycemia","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:71212","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of cell death (necrosis) affecting the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002605","HPO_Name__c":"Hepatic necrosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71212","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008151","HPO_Synonym__c":"Increased INR; Increased international normalized ratio; Low factor II activity; Prolonged PT; Reduced factor II activity; Reduced prothrombin activity","HPO_Name__c":"Prolonged prothrombin time","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71212","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030781","HPO_Name__c":"Increased circulating free fatty acid level","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:71212","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal concentration in the blood circulation of an acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012071","HPO_Synonym__c":"Abnormal circulating esterified carnitine concentration","HPO_Name__c":"Abnormal circulating acylcarnitine concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:71212","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002910","HPO_Synonym__c":"Abnormal liver enzymes; Abnormal liver function; Abnormal liver function tests; Elevated circulating hepatic transaminase activity; Elevated liver enzymes; Elevated serum transaminases; Elevated transaminases; High liver enzymes; Increased liver enzymes; Increased liver function tests; Increased transaminases; Raised liver enzymes; Subclinical abnormal liver function tests","HPO_Name__c":"Elevated circulating hepatic transaminase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:71212","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001254","HPO_Synonym__c":"Dullness; Inaction; Inactivity; Languor; Lethargy; Slowness; Torpor","HPO_Name__c":"Lethargy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71212","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002013","HPO_Synonym__c":"Emesis; Throwing up; Vomiting","HPO_Name__c":"Vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71212","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Steatosis is a term used to denote lipid accumulation within hepatocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001397","HPO_Synonym__c":"Fatty infiltration of liver; Fatty liver; Liver steatosis; Steatosis","HPO_Name__c":"Hepatic steatosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:71212","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Concentration of carnitine in the blood circulation below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003234","HPO_Synonym__c":"Decreased plasma carnitine","HPO_Name__c":"Decreased circulating carnitine concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:71212","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008180","HPO_Synonym__c":"Mildly elevated CPK; Mildly elevated creatine phosphokinase; Mildly elevated serum CK; Mildly elevated serum CPK; Mildly elevated serum phospho-CK; Mildly increased creatine kinase; Mildly increased serum creatine kinase; Moderately elevated serum CK; Moderately elevated serum CPK; Moderately increased serum creatine kinase","HPO_Name__c":"Mildly elevated creatine kinase","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:71212","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006554","HPO_Synonym__c":"Acute liver failure","HPO_Name__c":"Acute hepatic failure","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71212","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001998","HPO_Synonym__c":"Low blood sugar in newborn","HPO_Name__c":"Neonatal hypoglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:71212","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of Developmental delay characterized by a delay in acquiring motor skills.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001270","HPO_Synonym__c":"Delay in development of motor milestones; Delay in motor development; Delayed development of motor milestones; Delayed early motor milestones; Delayed motor development; Delayed motor milestones; Locomotor delay; Motor developmental delay; Motor developmental milestones not achieved; Motor retardation; Retarded motor development; Slow development of motor milestones","HPO_Name__c":"Motor delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71212","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008872","HPO_Name__c":"Feeding difficulties in infancy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71212","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased concentration of ammonia in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001987","HPO_Synonym__c":"High blood ammonia levels","HPO_Name__c":"Hyperammonemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:71212","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Presence of myoglobin in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002913","HPO_Name__c":"Myoglobinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:71212","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002173","HPO_Name__c":"Hypoglycemic seizures","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:71212","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000580","HPO_Synonym__c":"Pigmentary retinal deposits; Retinal pigment clumping; Retinal pigmentary clumping; Retinal pigmentary degeneration","HPO_Name__c":"Pigmentary retinopathy","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Endocrine","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Endocrine","Epilepsy","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["hadh hyperinsulinemic hypoglycemia (disease)"," hadh-related hyperinsulinism"," hhf4"," hyperinsulinemic hypoglycemia (disease) caused by mutation in hadh"," hyperinsulinemic hypoglycemia due to hadh deficiency"," hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency"," hyperinsulinemic hypoglycemia, familial, type 4"," hyperinsulinism due to glutamodehydrogenase deficiency"," hyperinsulinism due to schad deficiency"," hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency"," hyperinsulinism due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency"," schad deficiency"]}