Recurrent stupor due to lysinuric protein intolerance.
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.
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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