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Glutaric aciduria Type I (GA1)
GCDH
GA1 is a rare disorder affecting the catabolism of the amino acids lysine, hydroxylysine and tryptophan, caused by mutations in the GCDH gene. There is wide variation in disease severity, even among affected siblings. Some patients are asymptomatic even without treatment, whereas others have severe neurologic phenotype characterized by progressive dystonia, spasticity and opisthotonos. Macrocephaly is a common feature. Affected children are generally well at birth and may present with irritability, feeding difficulties, repeated fevers, insomnia, or hypotonia. Some affected individuals show normal patterns of urine organic acids and plasma acylcarnitines, and therefore escape detection by newborn screening. Enzymatic or molecular testing of the GCDH gene is often necessary to make the diagnosis of GA1 in individuals with clinical features of the disorder without consistent biochemical findings. In patients with an unequivocal diagnosis of GA1 based on enzyme studies, mutation analysis is expected to identify greater than 95% of mutant alleles.
Using genomic DNA, bi-directional sequence of the coding region and splice junctions of the GCDH gene (exons 1-11) is analyzed. Carrier testing and prenatal diagnosis is available once the mutation in the family has been defined.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
GA1, GAI, GCDH, urine organic analysis, plasma acylcarnities, urinary, acylglycines, glutaric, 3-hydroxyglutaric, acids, glutaric academia, glutaryl-CoA dehydrogenase deficiency, newborn screening
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