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Pyruvate dehydrogenase complex deficiency with multiple minor anomalies
Author(s) -
SAIJO HARUMI,
TANAKA HAJIME,
ITO JUNICHI,
TASAKI TAKUMI,
CHO KAZUHIKO,
TOKUMITSU AYA,
TAKAHASHI SATORU,
MIYAMOTO AKIE,
OKI JUNICHI
Publication year - 1997
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1997.tb03588.x
Subject(s) - medicine , pyruvate dehydrogenase complex , lactic acidosis , inborn error of metabolism , palpebral fissure , frontal bossing , endocrinology , anatomy , biochemistry , biology , enzyme
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) Elα 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.