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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Propionic acidemia


Other Names for this Disease

  • Glycinemia, ketotic
  • Hyperglycinemia with ketoacidosis and leukopenia
  • Ketotic glycinemia
  • Ketotic hyperglycinemia
  • PCC deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of propionic acidemia?

In most cases, the features of propionic acidemia become apparent within a few days after birth. The initial symptoms include poor feeding, vomiting, loss of appetite, weak muscle tone (hypotonia), and lack of energy (lethargy). These symptoms sometimes progress to more serious medical problems, including heart abnormalities, seizures, coma, and possibly death. Less commonly, the signs and symptoms of propionic acidemia appear during childhood and may come and go over time. Some affected children experience intellectual disability or delayed development. In children with this later-onset form of the condition, episodes of more serious health problems can be triggered by prolonged periods without food (fasting), fever, or infections.[1]
Last updated: 12/23/2010

The Human Phenotype Ontology provides the following list of signs and symptoms for Propionic acidemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Aminoaciduria 90%
Constipation 90%
Hyperammonemia 90%
Hypoglycemia 90%
Abnormality of immune system physiology 50%
Arrhythmia 50%
Cognitive impairment 50%
Hepatomegaly 50%
Hallucinations 7.5%
Hypertrophic cardiomyopathy 7.5%
Cerebellar hemorrhage 5%
Acute encephalopathy -
Anemia -
Apnea -
Autosomal recessive inheritance -
Cardiomyopathy -
Cerebral atrophy -
Coma -
Constipation -
Dehydration -
Dystonia -
Eczema -
Failure to thrive -
Feeding difficulties in infancy -
Hepatomegaly -
Hyperammonemia -
Hyperglycinemia -
Hyperglycinuria -
Hypoglycemia -
Lactic acidosis -
Lethargy -
Limb hypertonia -
Metabolic acidosis -
Muscular hypotonia of the trunk -
Neutropenia -
Osteoporosis -
Pancreatitis -
Pancytopenia -
Poor appetite -
Propionyl-CoA carboxylase deficiency -
Seizures -
Short stature -
Tachypnea -
Thrombocytopenia -
Vomiting -

Last updated: 11/3/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Propionic acidemia. Genetics Home Reference. July 2007; http://ghr.nlm.nih.gov/condition/propionic-acidemia. Accessed 3/30/2011.


Other Names for this Disease
  • Glycinemia, ketotic
  • Hyperglycinemia with ketoacidosis and leukopenia
  • Ketotic glycinemia
  • Ketotic hyperglycinemia
  • PCC deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.