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Recurrent stupor due to lysinuric protein intolerance.
Moosa, N V Ahsan; Minal, D; Rao, Ananth N; Kumar, Anand.
Afiliación
  • Moosa NV; Department of Neurology, Amrita Institute of Medical Sciences & Research Center, Cochin, Kerala, India. nvahsanmoosa@aimshospital.org
Neurol India ; 53(3): 333-4, 2005 Sep.
Article en En | MEDLINE | ID: mdl-16230804
ABSTRACT
Recurrent stupor in children is an uncommon clinical problem with a wide differential diagnosis; inherited metabolic disorders account for a vast majority. We report a 9-year-old girl with recurrent episodes of stupor. Initial episode was treated as viral encephalitis and the second episode was managed as non-convulsive status epilepticus. Hyperammonemia was detected in the last episode. Metabolic work-up after dietary protein challenge revealed classical biochemical features of lysinuric protein intolerance. She was managed with protein-restricted diet, which resulted in marked neurological improvement. LPI is a rare inherited metabolic disorder due to membrane transport defect of cationic amino acids.
Asunto(s)
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Bases de datos: MEDLINE Asunto principal: Coma / Errores Innatos del Metabolismo de los Aminoácidos / Amoníaco / Lisina Límite: Child / Female / Humans Idioma: En Revista: Neurol India Año: 2005 Tipo del documento: Article País de afiliación: India
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Bases de datos: MEDLINE Asunto principal: Coma / Errores Innatos del Metabolismo de los Aminoácidos / Amoníaco / Lisina Límite: Child / Female / Humans Idioma: En Revista: Neurol India Año: 2005 Tipo del documento: Article País de afiliación: India