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: Jung Min Ko, Choong Ho Shin, Sei Won Yang, Moon Woo Seong, Sung Sup Park, Junghan Song
• Journal: Journal of Korean medical science (J Korean Med Sci) Vol. 27 Issue 8 Pg. 961-4 (Aug 2012) ISSN: 1598-6357 [Electronic] Korea (South)
• PMID: 22876067 (Publication Type: Case Reports, Journal Article)

Chemical References

• Amino Acid Transport System y+L
• Antifungal Agents
• Fusion Regulatory Protein 1, Light Chains
• SLC7A7 protein, human
• Vitamin B Complex
• Citrulline
• Sodium Benzoate
• Carnitine

Topics

• Amino Acid Metabolism, Inborn Errors (complications, diet therapy, genetics)
• Amino Acid Transport System y+L
• Antifungal Agents (therapeutic use)
• Asian People (genetics)
• Carnitine (therapeutic use)
• Child, Preschool
• Citrulline (therapeutic use)
• Diet, Protein-Restricted
• Disorders of Excessive Somnolence (complications, diagnosis, drug therapy)
• Female
• Fusion Regulatory Protein 1, Light Chains (genetics)
• Growth Disorders (complications, diagnosis)
• Homozygote
• Humans
• Hypercalcemia (complications, diagnosis)
• Metabolic Diseases (complications, diagnosis)
• Mutation
• Nephrocalcinosis (complications, diagnosis)
• Republic of Korea
• Sequence Analysis, DNA
• Sodium Benzoate (therapeutic use)
• Vitamin B Complex (therapeutic use)