Biotinidase deficiency: Clinical course and biochemical findings

Abstract

Abstract The biotin responsive late‐onset multiple carboxylase deficiency (McKusick 25327) has recently been shown to be due to biotinidase deficiency (EC 3.5.1.12; Wolf et al. , 1983a). This affects the regeneration of biotin from biocytin so that biotin is not available for the mitochondrial carboxylases. In consequence the metabolism of propionylcoenzyme A, 3‐methylcrotonylcoenzyme A and pyruvate is hampered. Symptoms which are considered to be characteristic of this condition are muscular hypotonia, ataxia, seizures, alopecia and seborrhoeic dermatitis. We report a case who presented only with exanthema and seizures during an acute febrile illness.