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Holocarboxylase synthetase deficiency: 9-year follow-up of a patient on chronic biotin therapy and a review of the literature.
Michalski, A J; Berry, G T; Segal, S.
Afiliação
  • Michalski AJ; Division of Biochemical Development and Molecular Diseases, Children's Hospital of Philadelphia, PA.
J Inherit Metab Dis ; 12(3): 312-6, 1989.
Article em En | MEDLINE | ID: mdl-2515372
We report on the long-term medical and neurodevelopmental follow-up of a patient with the rare and potentially lethal disease, holocarboxylase synthetase deficiency. He was originally treated prenatally with biotin megatherapy and for 9 years with 6 mg/day since his only episode of fulminant acidosis at 3 months of age. While growth and general health have been normal, the patient has exhibited signs of minimal brain dysfunction. However, evaluation of unaffected siblings suggests that this may be unrelated to his metabolic disease. A review of the literature and recommendations for optimal treatment are provided.
Assuntos
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Biotina / Carbono-Nitrogênio Ligases / Ligases Tipo de estudo: Guideline / Observational_studies / Prognostic_studies Limite: Child / Female / Humans / Infant / Newborn Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 1989 Tipo de documento: Article País de publicação: Estados Unidos
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Biotina / Carbono-Nitrogênio Ligases / Ligases Tipo de estudo: Guideline / Observational_studies / Prognostic_studies Limite: Child / Female / Humans / Infant / Newborn Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 1989 Tipo de documento: Article País de publicação: Estados Unidos