Biotinidase deficiency presenting with dermal manifestations of acrodermatitis enteropathica
Journal of Shaheed Sadoughi University of Medical Sciences and Health Services. 2005; 13 (3): 73-77
em Persa
| IMEMR
| ID: emr-72213
ABSTRACT
Biotin is a water-soluble vitamin and co-factor for activation of carboxylases apoenzymes. Biotinidase enzyme is essential for release of biotin from apoenzymes. Absence of biotinidase is an autosomal recessive trait with a prevalence of 1 in 60000. Clinical manifestations of biotinidase deficiency include dermatitis, alopecia, seizures, hypotonia, developmental delay, hearing loss, visual impairment and immunodeficiency. With early diagnosis and treatment with biotin supplements, it is possible to prevent clinical manifestations and neurological deficits. We report a case of biotinidase deficiency with seizures, developmental delay, acrodermatitis enthropathica manifestations and mild compensated acidosis
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Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Convulsões
/
Biotina
/
Acrodermatite
/
Deficiência de Biotinidase
/
Deficiências Nutricionais
Tipo de estudo:
Relato de Casos
/
Estudo de rastreamento
Limite:
Humanos
Idioma:
Persa
Revista:
J. Shaheed Sadoughi Univ. Med. Sci. Health Serv.
Ano de publicação:
2005
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