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Isolated biotin‐resistant deficiency of 3‐methylcrotonyl‐CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome
Author(s) -
Bannwart C.,
Wermuth B.,
Baumgartner R.,
Suormala T.,
Wiesmann U. N.
Publication year - 1992
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/bf01800223
Subject(s) - hypotonia , epilepsy , medicine , biotin , psychomotor retardation , pediatrics , endocrinology , pyruvate carboxylase , gastroenterology , enzyme , biology , pathology , genetics , biochemistry , alternative medicine , psychiatry
Summary The son of Kurdish, consanguineous parents (cousin marriage) presented from the first day of life with inititally focal and later generalized attacks of epileptic seizures and a severe generalized muscular hypotonia. Urinary excretion of 3‐hydroxyisovalerate and of 3‐methylcrotonylglycine was persistently increased. Diagnosis of isolated biotin‐resistant 3‐methylcrotonyl‐CoA carboxylase deficiency was confirmed in cultured fibroblasts. Psychomotor retardation was progressive, seizures and marked EEG abnormalities persisted. Treatment with leucine and protein‐resistricted diet under hospital control did not significantly improve these conditions. The patient died from a cardiac and circulatory failure after a prolonged epileptic attack, with bronchial aspiration. The non‐responsiveness of our patient to therapy and the fatal outcome indicate the existence of a severe neonatal variant of this otherwise rather benign genetic enzyme deficiency.