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Dermatologic Signs of Biotin Deficiency Leading to the Diagnosis of Multiple Carboxylase Deficiency
Author(s) -
Seymons Katia,
De Moor Anja,
De Raeve Hendrik,
Lambert Julien
Publication year - 2004
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.0736-8046.2004.21308.x
Subject(s) - biotin , medicine , biotin deficiency , pyruvate carboxylase , biotinidase deficiency , central nervous system , physiology , pediatrics , biology , biochemistry , newborn screening , enzyme , vitamin
The biotin‐responsive, multiple carboxylase deficiencies are autosomal recessively inherited disorders of metabolism in which biotin‐dependent carboxylases show diminished activity. This results in an accumulation of organic acids in the urine. The clinical picture involves the nervous system, skin, respiratory system, digestive system, and immune system. The disorder has a good prognosis if biotin therapy is introduced early. If not, it can result in irreversible damage to the central nervous system and early death from metabolic acidosis. We report a 4‐year‐old girl with unexplained seizures that did not respond well to anticonvulsants. The development of skin problems, which histologically could match the diagnosis of a nutritional dermatitis, together with the fact that the child was constantly eating without gaining weight, led us to the diagnosis of a metabolic disorder. The accumulation of organic acids in the urine suggested the possibility of a biotin deficiency. With biotin therapy the skin problems resolved completely. The seizures also diminished. This case shows that in young children with unexplained seizures that do not respond well to classic anticonvulsant therapy, the possibility of biotin deficiency should always be considered. This article also includes a thorough review of the skin manifestations and other problems caused by biotin deficiency.