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Pyruvate dehydrogenase complex deficiency with multiple minor anomalies
1Department of Pediatrics, Asahikawa Habilitation Center for Disabled Children, Japan.
Insights
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.
Abstract:
Pyruvate dehydrogenase complex (PDHC) deficiency is known to cause congenital lactic acidosis. The case of a 9-month-old female infant with PDHC deficiency caused by a mutation in exon 11 of the pyruvate dehydrogenase (PDH) E1 alpha gene is described. Her facial features were as follows: frontal bossing, upslanting palpebral fissures, a short upturned nose, a long philtrum and low set ears. These anomalies are characteristic not only of a malformation syndrome or chromosomal aberration, but also of PDHC deficiency. Because PDHC deficiency requires early treatment, metabolic disorders should be kept in mind in a patient with dysmorphic features. Further, she had multiple minor anomalies including bilateral inguinal herniae, an umbilical hernia and small hands and feet, which have not been described in previous reports.