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CONGENITAL LACTIC ACIDOSIS, α‐KETOGLUTARIC ACIDURIA AND VARIANT FORM OF MAPLE SYRUP URINE DISEASE DUE TO A SINGLE ENZYME DEFECT: DIHYDROLIPOYL DEHYDROGENASE DEFICIENCY
Author(s) -
MUNNICH A.,
SAUDUBRAY J. M.,
TAYLOR J.,
CHARPENTIER C.,
MARSAC C.,
ROCCHICCIOLI F.,
AMEDEEMANESME O.,
COUDE F. X.,
FREZAL J.,
ROBINSON B. H.
Publication year - 1982
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1982.tb09393.x
Subject(s) - maple syrup urine disease , medicine , oxidative decarboxylation , lactic acidosis , biochemistry , pyruvate dehydrogenase complex , lactate dehydrogenase , endocrinology , enzyme , biology , amino acid , leucine
. A 6 month‐old girl with vomiting, hypotonia and motor retardation was found to have elevated blood lactate, pyruvate, and branched chain amino acids essociated with ketoglutaric aciduria. The combination of a congenital lactic acidosis with a variant form of maple syrup urine disease and ketoglutaric aciduria suggested a defect of a single component, common to pyruvate dehydrogenase, to branched chain ketoacid dehydrogenase, and to α‐ketoglutarate dehydrogenase. Dihydrolipoyl dehydrogenase is the common component (E 3 ). The three enzyme activities and the E 3 component activity were found to be reduced in liver and cultured fibroblasts, thus confirming that a single defect of this component can result in a multiple deflciency involving several oxidative decarboxylation reactions.