Recurrent stupor due to lysinuric protein intolerance.
Neurol India
;
2005 Sep; 53(3): 333-4
Artigo
em Inglês
| IMSEAR
| ID: sea-121436
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.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Feminino
/
Humanos
/
Criança
/
Coma
/
Dieta com Restrição de Proteínas
/
Erros Inatos do Metabolismo dos Aminoácidos
/
Aminoácidos
/
Amônia
/
Lisina
Idioma:
Inglês
Revista:
Neurol India
Ano de publicação:
2005
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS