PYRUVATE-DEHYDROGENASE COMPLEX DEFICIENCY WITH MULTIPLE MINOR ANOMALIES

Pyruvate dehydrogenase complex (PDHC) deficiency is known to cause con genital lactic acidosis, The case of a 9-month-old female infant with PDHC deficiency caused by a mutation in exon 11 of the pyruvate dehydr ogenase (PDH) E1 alpha gene is described. Her facial features were as follows: frontal bossing, upslanting palpebral fissures, a short uptur ned nose, a long philtrum and low set ears. These anomalies are charac teristic not only of a malformation syndrome or chromosomal aberration , but also of Pr,HC deficiency. Because PDHC deficiency requires early treatment, metabolic disorders should be kept in mind in a patient wi th dysmorphic features. Further, she had multiple minor anomalies incl uding bilateral inguinal herniae, an umbilical hernia and small hands and fret, which have not been described in previous reports.