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Disorder Factsheet for Professionals

Organic Acid Disorders

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Disease Name Glutaric acidemia, type 1
Alternate name(s) Glutaric aciduria I, Glutaryl-CoA dehydrogenase deficiency
Acronym GA1, GAI
Disease Classification Organic Acid Disorder
Variants Yes
Variant name Riboflavin responsive GA1
Symptom onset Infancy (typically 2- 37 months)
Symptoms Macrocephaly may be present at birth, acute encephalitic-like crises; neurodegenerative disorder with spasticity, dystonia, choreoathetosis, ataxia and dyskinesia, seizures, hypotonia, death due to Reye-like syndrome.
Natural history without treatment Possible developmental delay due to encephalitis-like crisis; neurologic deterioration including spasticity, dystonic cerebral palsy. May have neurologic signs with normal IQ. Some individuals may be asymptomatic.
Natural history with treatment If instituted before any damage occurs, normal outcome may occur. Risk for neurologic damage is highest in first few years. Some evidence that treatment may slow neurologic deterioration.
Treatment Lysine and tryptophan restricted diet, riboflavin supplementation, carnitine supplementation. Rapid treatment of intercurrent illness with intravenous glucose, carnitine and appropriate supportive measures.
Other Profuse sweating has been reported. Neuroradiographic findings of frontotemporal atrophy on CT or MRI with increased CSF containing spaces in the sylvian fissures and anterior to the temporal lobes. Also decreased attenuation in cerebral white matter on CT and increased signal intensity on MRI. Basal ganglia changes.
Physical phenotype Macrocephaly, cerebral palsy
Inheritance Autosomal recessive
General population incidence 1:40,000 in Caucasians and 1:30,000 in Sweden
Ethnic differences Yes
Population Old Amish and Ojibway Indians in Canada
Ethnic incidence 1/10 carrier frequency
Enzyme location Mitochondria; liver, kidney, fibroblasts and leukocytes
Enzyme Function Metabolizes lysine, hydroxylysine and tryptophan
Missing Enzyme Glutaryl-CoA dehydrogenase
Metabolite changes Increased glutaric acid in urine, increased glutaric acid and 3-hydroxyglutaric acid in plasma, 3-hydroxyglutaric and glutaconic acid in urine.
Gene GCDH
Gene location 19p13.2
DNA testing available Yes.
DNA testing detail No common mutations outside of Old Amish (A421V)
Prenatal testing Enzymen activity in CVS and amniocytes
MS/MS Profile Elevated C5DC - can be missed some patients
OMIM Link www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=231670
Genetests Link www.genetests.org
Support Group

Organic Acidemia Association
www.oaanews.org

Save Babies through Screening Foundation
www.savebabies.org

Genetic Alliance
www.geneticalliance.org

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THIS INFORMATION DOES NOT PROVIDE MEDICAL ADVICE. All content ("Content"), including text, graphics, images and information are for general informational purposes only. You are encouraged to confer with your doctor or other health care professional with regard to information contained on this information sheet. After reading this information sheet, you are encouraged to review the information carefully with your doctor or other healthcare provider. The Content is not intended to be a substitute for professional medical advice, diagnosis or treatment. NEVER DISREGARD PROFESSIONAL MEDICAL ADVICE, OR DELAY IN SEEKING IT, BECAUSE OF SOMETHING YOU HAVE READ ON THIS INFORMATION SHEET.
 

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Last updated: 07/28/2005