title: Recurrent stupor due to lysinuric protein intolerance.
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.
authors.affiliation: Department of Neurology, Amrita Institute of Medical Sciences & Research Center, Cochin, Kerala, India. nvahsanmoosa@aimshospital.org
authors.forename: N V Ahsan
authors.initials: NV
authors.lastname: Moosa
authors.forename: D
authors.initials: D
authors.lastname: Minal
authors.forename: Ananth N
authors.initials: AN
authors.lastname: Rao
authors.forename: Anand
authors.initials: A
authors.lastname: Kumar
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000378:metabolism* / Q000628:therapy / Q000652:urine; D000596:Amino Acids / Q000097:blood / Q000652:urine; D000641:Ammonia / Q000097:blood*; D002648:Child; D003128:Coma / Q000209:etiology*; D018753:Diet, Protein-Restricted; D005260:Female; D006801:Humans; D008239:Lysine / Q000097:blood / Q000652:urine*
chemical_list: D000596:Amino Acids; D000641:Ammonia; D008239:Lysine