Recurrent stupor due to lysinuric protein intolerance.
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.
Moosa
N V Ahsan
NV
Department of Neurology, Amrita Institute of Medical Sciences & Research Center, Cochin, Kerala, India. nvahsanmoosa@aimshospital.org
Minal
D
D
Rao
Ananth N
AN
Kumar
Anand
A
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*
D000596:Amino Acids; D000641:Ammonia; D008239:Lysine