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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Glutaric acidemia type II


Other Names for this Disease

  • EMA
  • Ethylmalonic-adipicaciduria
  • GA 2
  • Glutaric acidemia 2
  • Glutaric acidemia type 2
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 glutaric acidemia type II?

Signs and symptoms of glutaric acidemia type II (GA2) can vary widely depending on the age of onset and severity of the condition in each affected individual. In most cases, the condition appears in infancy or early childhood as a sudden episode called a metabolic crisis which causes weakness; behavior changes such as poor feeding and decreased activity; and vomiting. These crises can be life-threatening and may be triggered by common childhood illnesses or other stresses on the body.

The most severe cases may appear in the neonatal period (within the first 4 weeks of life) and may also be characterized by the presence of physical abnormalities at birth. These abnormalities may include brain malformations; an enlarged liver (hepatomegaly); a weakened and enlarged heart (dilated cardiomyopathy); fluid-filled cysts and other malformations of the kidneys; unusual facial features; and genital abnormalities. Some affected individuals have a characteristic odor resembling sweaty feet.

Other cases are less severe and may appear later in childhood, in adolescence, or in adulthood. In the most mild cases, muscle weakness may be the first sign of the disorder.[1]
Last updated: 8/16/2013

The Human Phenotype Ontology provides the following list of signs and symptoms for Glutaric acidemia type II. 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)
Abnormal facial shape -
Abnormality of the genital system -
Abnormality of the pinna -
Autosomal recessive inheritance -
Congenital cataract -
Defective dehydrogenation of isovaleryl CoA and butyryl CoA -
Depressed nasal bridge -
Electron transfer flavoprotein-ubiquinone oxidoreductase defect -
Ethylmalonic aciduria -
Generalized aminoaciduria -
Gliosis -
Glutaric acidemia -
Glutaric aciduria -
Glycosuria -
Hepatic periportal necrosis -
Hepatic steatosis -
Hepatomegaly -
High forehead -
Hypoglycemia -
Hypoglycemic coma -
Jaundice -
Macrocephaly -
Muscle weakness -
Muscular hypotonia -
Nausea -
Neonatal death -
Pachygyria -
Polycystic kidney dysplasia -
Proximal tubulopathy -
Pulmonary hypoplasia -
Renal cortical cysts -
Respiratory distress -
Telecanthus -
Vomiting -
Wide anterior fontanel -

Last updated: 12/1/2014

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. Glutaric acidemia type II. Genetics Home Reference. July 2008; http://www.ghr.nlm.nih.gov/condition/glutaric-acidemia-type-ii. Accessed 8/16/2013.


Other Names for this Disease
  • EMA
  • Ethylmalonic-adipicaciduria
  • GA 2
  • Glutaric acidemia 2
  • Glutaric acidemia type 2
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.