A Novel Homozygous LIPA Mutation in a Korean Child with Lysosomal Acid Lipase Deficiency

Pediatric Gastroenterology, Hepatology & Nutrition
Kwang Yeon KimJae Sung Ko

Abstract

Patients with lysosomal acid lipase (LAL) deficiency and glycogen storage disease (GSD) demonstrated hepatomegaly and dyslipidemia. In our case, a 6-year-old boy presented with hepatosplenomegaly. At 3 years of age, GSD had been diagnosed by liver biopsy at another hospital. He showed elevated serum liver enzymes and dyslipidemia. Liver biopsy revealed diffuse microvesicular fatty changes in hepatocytes, septal fibrosis and foamy macrophages. Ultrastructural examination demonstrated numerous lysosomes that contained lipid material and intracytoplasmic cholesterol clefts. A dried blood spot test revealed markedly decreased activity of LAL. LIPA gene sequencing identified the presence of a novel homozygous mutation (p.Thr177Ile). The patient's elevated liver enzymes and dyslipidemia improved with enzyme replacement therapy. This is the first report of a Korean child with LAL deficiency, and our findings suggest that this condition should be considered in the differential diagnosis of children with hepatosplenomegaly and dyslipidemia.

References

Aug 15, 1998·Molecular Genetics and Metabolism·H DuG A Grabowski
Aug 2, 2008·Journal of Pediatric Gastroenterology and Nutrition·Solange HellerAlejandra Consuelo
Feb 21, 2013·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Stuart A ScottRobert J Desnick
Nov 22, 2013·Journal of Human Genetics·Jae Sung KoSung Sup Park
Aug 8, 2015·Journal of Pediatric Gastroenterology and Nutrition·Barbara K BurtonAnthony G Quinn
Sep 10, 2015·The New England Journal of Medicine·Barbara K BurtonAnthony G Quinn
Sep 20, 2015·Hepatology Research : the Official Journal of the Japan Society of Hepatology·Naomi KuranobuSusumu Kanzaki

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Citations

May 9, 2021·Jornal de pediatria·Camila da Rosa WiteckMaria Marlene de Souza Pires

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Methods Mentioned

BETA
biopsy

Software Mentioned

Mutation Taster
Polyphen

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