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Pyruvate dehydrogenase complex deficiency with multiple minor anomalies
1Department of Pediatrics, Asahikawa Habilitation Center for Disabled Children, Japan.
Acta Paediatrica Japonica : Overseas Edition
|April 1, 1997
Summary
Pyruvate dehydrogenase complex (PDHC) deficiency, a cause of congenital lactic acidosis, was identified in an infant due to a specific gene mutation. Early diagnosis of this metabolic disorder is crucial for timely treatment.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Pyruvate dehydrogenase complex (PDHC) deficiency is a known cause of congenital lactic acidosis.
- Genetic mutations in the pyruvate dehydrogenase (PDH) E1 alpha gene can lead to PDHC deficiency.