title: The first Korean case of lysinuric protein intolerance: presented with short stature and increased somnolence.
abstract: Lysinuric protein intolerance (LPI) is a rare inherited metabolic disease, caused by defective transport of dibasic amino acids. Failure to thrive, hepatosplenomegaly, hematological abnormalities, and hyperammonemic crisis are major clinical features. However, there has been no reported Korean patient with LPI as of yet. We recently encountered a 3.7-yr-old Korean girl with LPI and the diagnosis was confirmed by amino acid analyses and the SLC7A7 gene analysis. Her initial chief complaint was short stature below the 3rd percentile and increased somnolence for several months. Hepatosplenomegaly was noted, as were anemia, leukopenia, elevated levels of ferritin and lactate dehydrogenase, and hyperammonemia. Lysine, arginine, and ornithine levels were low in plasma and high in urine. The patient was a homozygote with a splicing site mutation of IVS4+1G > A in the SLC7A7. With the implementation of a low protein diet, sodium benzoate, citrulline and L-carnitine supplementation, anemia, hyperferritinemia, and hyperammonemia were improved, and normal growth velocity was observed.
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Jung Min
authors.initials: JM
authors.lastname: Ko
authors.forename: Choong Ho
authors.initials: CH
authors.lastname: Shin
authors.forename: Sei Won
authors.initials: SW
authors.lastname: Yang
authors.forename: Moon Woo
authors.initials: MW
authors.lastname: Seong
authors.forename: Sung Sup
authors.initials: SS
authors.lastname: Park
authors.forename: Junghan
authors.initials: J
authors.lastname: Song
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000178:diet therapy / Q000235:genetics*; D027241:Amino Acid Transport System y+L; D000935:Antifungal Agents / Q000627:therapeutic use; D044466:Asian People / Q000235:genetics*; D002331:Carnitine / Q000627:therapeutic use; D002675:Child, Preschool; D002956:Citrulline / Q000627:therapeutic use; D018753:Diet, Protein-Restricted; D006970:Disorders of Excessive Somnolence / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy; D005260:Female; D027301:Fusion Regulatory Protein 1, Light Chains / Q000235:genetics; D006130:Growth Disorders / Q000150:complications / Q000175:diagnosis*; D006720:Homozygote; D006801:Humans; D006934:Hypercalcemia / Q000150:complications / Q000175:diagnosis*; D008659:Metabolic Diseases / Q000150:complications / Q000175:diagnosis*; D009154:Mutation; D009397:Nephrocalcinosis / Q000150:complications / Q000175:diagnosis*; D056910:Republic of Korea; D017422:Sequence Analysis, DNA; D020160:Sodium Benzoate / Q000627:therapeutic use; D014803:Vitamin B Complex / Q000627:therapeutic use
chemical_list: D027241:Amino Acid Transport System y+L; D000935:Antifungal Agents; D027301:Fusion Regulatory Protein 1, Light Chains; C421261:SLC7A7 protein, human; D014803:Vitamin B Complex; D002956:Citrulline; D020160:Sodium Benzoate; D002331:Carnitine