{"Name":"Tryptophan malabsorption syndrome","DiseaseID__c":"GARD:0005939","id":5939,"encodedName":"tryptophan-malabsorption-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Tryptophan malabsorption syndrome","Xref_IDs__c":"59531002; C0268478; C536239; MEDGEN:75685; MONDO:0008877; OMIM:211000; ORPHA:94086","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008877","Disease_Description__c":"A rare inborn error of metabolism characterized by early-onset diarrhea, fever, recurrent hypoglycemia, hypercalcemia with nephrocalcinosis, metabolic acidosis, and indicanuria due to bacterial degradation of malabsorbed tryptophan with excessive indole production which, upon oxidation to indigo blue, causes bluish discoloration of urine spots in the diaper of the affected infant.","GARD_Name__c":"Tryptophan malabsorption syndrome","GARD_Synonym__c":"blue diaper syndrome; drummond syndrome; familial hypercalcemia-nephrocalcinosis-indicanuria syndrome; hypercalcemia, familial, with nephrocalcinosis and indicanuria","Curated_Disease_Description_Source__c":"GARD:0005939","Curated_Disease_Description__c":"Blue diaper syndrome is a rare metabolic disorder characterized by problems in the absorption of the aminoacid tryptophan and blue urine stains on diapers. Symptoms typically include digestive problems, fever, irritability, failure to thrive, and visual problems. The abnormally high levels of calcium in the blood (hypercalcemia) may result in accumulation of calcium in the kidneys (nephrocalcinosis) leading to impaired kidney function and possible kidney failure. The bluish urine-stained diapers occur when intestinal bacteria break down excessive amounts of tryptophan, a nutrient of the diet, leading to increase of indican and related compounds in the urine (indicanuria). Although the exact nature of the biochemical defect remains uncertain, it is believed to be related to a defect in the intestinal absorption and transport of tryptophan. The defect in tryptophan absorption may be associated with genetic changes in the LAT2 and TAT1 genes. Inheritance is autosomal recessive or X-linked recessive.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:94086","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008877","ORPHANET_ID__c":"ORPHA:94086","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de pañal azul","Spanish_Description_Source__c":"ORPHA:94086","Spanish_Description__c":"Es un error congénito y poco frecuente del metabolismo caracterizado por diarrea de aparición precoz, fiebre, hipoglucemia recurrente, hipercalcemia con nefrocalcinosis, acidosis metabólica e indicanuria debido a la degradación bacteriana del triptófano mal absorbido con producción excesiva de indol que, tras la oxidación a azul índigo, provoca una coloración azulada de las manchas de orina en el pañal del bebé afectado.","Spanish_Disease_Name__c":"síndrome de pañal azul","Spanish_GARD_Synonym__c":"síndrome de drummond","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":"Blue diaper syndrome is a rare metabolic disorder characterized by problems in the absorption of the aminoacid tryptophan and blue urine stains on diapers. Symptoms typically include digestive problems, fever, irritability, failure to thrive, and visual problems. The abnormally high levels of calcium in the blood (hypercalcemia) may result in accumulation of calcium in the kidneys (nephrocalcinosis) leading to impaired kidney function and possible kidney failure. The bluish urine-stained diapers occur when intestinal bacteria break down excessive amounts of tryptophan, a nutrient of the diet, leading to increase of indican and related compounds in the urine (indicanuria). Although the exact nature of the biochemical defect remains uncertain, it is believed to be related to a defect in the intestinal absorption and transport of tryptophan. The defect in tryptophan absorption may be associated with genetic changes in the LAT2 and TAT1 genes. Inheritance is autosomal recessive or X-linked recessive.","Curated_Disease_Description_Source__c":"GARD:0005939","GARD_Synonym__c":"blue diaper syndrome; drummond syndrome; familial hypercalcemia-nephrocalcinosis-indicanuria syndrome; hypercalcemia, familial, with nephrocalcinosis and indicanuria","Name":"Tryptophan malabsorption syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"}],"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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:94086"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:94086"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268478","Source__c":"C0268478","Xref__c":"C0268478"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536239","Source__c":"MONDO:0008877","Xref__c":"C536239"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75685","Source__c":"C0268478","Xref__c":"MEDGEN:75685"},{"URL__c":"https://www.orpha.net/en/disease/detail/94086","Source__c":"C0268478; MONDO:0008877; ORPHA:94086","Xref__c":"ORPHA:94086"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=59531002","Source__c":"C0268478; MONDO:0008877","Xref__c":"59531002"},{"URL__c":"https://www.omim.org/entry/211000","Source__c":"C0268478; MONDO:0008877; ORPHA:94086","Xref__c":"OMIM:211000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008877","Source__c":"GARD:0005939","Xref__c":"MONDO:0008877"}],"Inheritance__c":["X-linked","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:94086","HPO_Frequency__c":"Frequent (30-79%)","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:94086","HPO_Frequency__c":"Occasional (5-29%)","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:94086","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004324","HPO_Synonym__c":"Increased body weight","HPO_Name__c":"Increased body weight","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:94086","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally increased phosphate concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002905","HPO_Synonym__c":"High blood phosphate levels","HPO_Name__c":"Hyperphosphatemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:94086","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal blue color of the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040317","HPO_Name__c":"Blue urine","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:94086","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001942","HPO_Name__c":"Metabolic acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:94086","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Recurrent episodes of decreased concentration of glucose in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001988","HPO_Synonym__c":"hypoglycaemia, recurrent; hypoglycemia, recurrent; Hypoglycemic episodes; Recurrent hypoglycaemia; Recurrent hypoglycemic episodes; Recurrent low blood sugar levels","HPO_Name__c":"Recurrent hypoglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:94086","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction below the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031507","HPO_Synonym__c":"Decreased circulating T4 level; Decreased circulating thyroxine level; Reduced T4 plasma level","HPO_Name__c":"Decreased circulating T4 concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:94086","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002925","HPO_Synonym__c":"Elevated thyroid stimulating hormone; Elevated thyroid stimulating hormone levels; High TSH; Increased serum thyroid-stimulating hormone; Increased thyroid-stimulating hormone; Increased thyroid-stimulating hormone level; Increased thyrotropin level; Thyroid-stimulating hormone excess; TSH excess","HPO_Name__c":"Elevated circulating thyroid-stimulating hormone concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:94086","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An elevated concentration of proinsulin (the prohormone precursor to insulin) to mature insulin in the circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031883","HPO_Name__c":"Increased proinsulin:insulin ratio","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:94086","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally increased calcium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003072","HPO_Synonym__c":"High blood calcium levels; Hypercalcaemia; Increased calcium in blood","HPO_Name__c":"Hypercalcemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:94086","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000121","HPO_Synonym__c":"Too much calcium deposited in kidneys","HPO_Name__c":"Nephrocalcinosis","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["blue diaper syndrome"," drummond syndrome"," familial hypercalcemia-nephrocalcinosis-indicanuria syndrome"," hypercalcemia, familial, with nephrocalcinosis and indicanuria"],"spanishId":13213,"spanishName":"sindrome-del-panal-azul"}