[Multiple carboxylase deficiency]

ABSTRACT

Multiple carboxylase deficiency is a syndrom in which biotin-dependant carboxylases show diminished activity du to a lack of biotin or autosomal recessively inherited disorders of biotin metabolism. The clinical picture involves the nervous system, skin, respiratory system, digestive system, and immune system. This syndrome is fatal in the absence of prompt diagnosis and treatment with biotin. Authors report the case of 2-month-old child explored for myoclonic seizures that do not respond well to classic anticonvulsivant therapy, hypotonia, skin problems with alopecia, appeared at age of one month. The laboratory examinations showed hyperammonemia and hyperlactacedemia.Multiple carboxylase deficiency was suspected and treatment with biotin [5mg/day] achieved a rapid improvement of the seizures and the skin problems