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Rhabdomyolysis in early‐onset very long‐chain acyl‐CoA dehydrogenase deficiency despite normal glucose after fasting
Author(s) -
Engbers H. M.,
Dorland L.,
De Sain M. G. M.,
Eskes P. F.,
Visser G.
Publication year - 2005
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/s10545-005-0190-y
Subject(s) - rhabdomyolysis , endocrinology , medicine , dehydrogenase , enzyme , biology , biochemistry
Summary A patient with very long‐chain acyl‐CoA dehydrogenase (VLCAD) deficiency presented in the neonatal period with hypoketotic hypoglycaemia and at the age of 1 year with rhabdomyolysis and normal glucose after fasting. Rhabdomyolysis may occur in the absence of hypoglycaemia in young infants as well as in older patients.