GCDH
Also written as: GCDH — Glutaryl-CoA dehydrogenase deficiency
Glutaryl-CoA dehydrogenase deficiency, a metabolic disorder detected through elevated glutarylcarnitine levels in newborn screening.
Full Definition
Glutaryl-CoA dehydrogenase deficiency is an organic acidemia caused by mutations in the GCDH gene. Affected infants may appear normal at birth but can develop acute encephalopathic crises during periods of metabolic stress. Early detection through newborn screening, identified by elevated C5DC (glutarylcarnitine) levels, enables dietary management and prevention of neurological damage through lysine restriction and carnitine supplementation.
Usage
Usage note: Use the acronym GCDH in clinical contexts; spell out when first mentioned in patient materials.
In Context
- "The C5DC level was significantly elevated, prompting further testing for GCDH." — laboratory report
- "GCDH is included in the core disorders recommended for universal screening." — clinical guideline