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 CASE REPORTS
Year : 2005  |  Volume : 53  |  Issue : 3  |  Page : 333--334

Recurrent stupor due to lysinuric protein intolerance


1 Departments of Neurology, Amrita Institute of Medical Sciences & Research Center, Cochin, Kerala, India
2 Departments of Biochemistry, Amrita Institute of Medical Sciences & Research Center, Cochin, Kerala, India

Correspondence Address:
N V Ahsan Moosa
Department of Neurology, Amrita Institute of Medical Sciences & Research Center, Cochin, 682026
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0028-3886.16935

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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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Online since 20th March '04
Published by Wolters Kluwer - Medknow