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Organic aciduria in neonatal multiple carboxylase deficiency
Author(s) -
Sweetman L.,
Nyhan W. L.,
Sakati N. A.,
Ohlsson A.,
Mange M. S.,
Boychuk R. B.,
Kaye R.
Publication year - 1982
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799754
Subject(s) - pyruvate carboxylase , biotinidase deficiency , medicine , biotin , sibling , metabolic acidosis , biotin deficiency , enzyme , endocrinology , pediatrics , physiology , newborn screening , biology , biochemistry , psychology , developmental psychology
A Samoan patient and a Saudi‐Arabian patient were found to have abnormalities in the pattern of organic acid metabolites characteristic of 3‐methylcrotonylglycinuria, propionic acidaemia and lactic acidosis. Both patients died early in life. The metabolic pattern is diagnostic of multiple carboxylase deficiency and an enzymatic diagnosis was made in a subsequent affected sibling of the first patient. Deficiency of the three carboxylases suggests a primary defect in the metabolism of biotin which is required for their activity. The importance of the recognition of the clinical picture is highlighted by the fact that this lethal disease is readily treated with biotin. These patients have prominent skin lesions which can serve as alerting signs for the diagnosis.