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

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...

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Autores principales: Kim, Kwang Yeon, Kim, Ju Whi, Lee, Kyung Jae, Park, Eunhyang, Kang, Gyeong Hoon, Choi, Young Hun, Kim, Woo Sun, Ko, Jung Min, Moon, Jin Soo, Ko, Jae Sung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5750382/
https://www.ncbi.nlm.nih.gov/pubmed/29302509
http://dx.doi.org/10.5223/pghn.2017.20.4.263
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author Kim, Kwang Yeon
Kim, Ju Whi
Lee, Kyung Jae
Park, Eunhyang
Kang, Gyeong Hoon
Choi, Young Hun
Kim, Woo Sun
Ko, Jung Min
Moon, Jin Soo
Ko, Jae Sung
author_facet Kim, Kwang Yeon
Kim, Ju Whi
Lee, Kyung Jae
Park, Eunhyang
Kang, Gyeong Hoon
Choi, Young Hun
Kim, Woo Sun
Ko, Jung Min
Moon, Jin Soo
Ko, Jae Sung
author_sort Kim, Kwang Yeon
collection PubMed
description 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.
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spelling pubmed-57503822018-01-04 A Novel Homozygous LIPA Mutation in a Korean Child with Lysosomal Acid Lipase Deficiency Kim, Kwang Yeon Kim, Ju Whi Lee, Kyung Jae Park, Eunhyang Kang, Gyeong Hoon Choi, Young Hun Kim, Woo Sun Ko, Jung Min Moon, Jin Soo Ko, Jae Sung Pediatr Gastroenterol Hepatol Nutr Case Report 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. The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition 2017-12 2017-12-22 /pmc/articles/PMC5750382/ /pubmed/29302509 http://dx.doi.org/10.5223/pghn.2017.20.4.263 Text en Copyright © 2017 by The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition http://creativecommons.org/licenses/by-nc/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Kim, Kwang Yeon
Kim, Ju Whi
Lee, Kyung Jae
Park, Eunhyang
Kang, Gyeong Hoon
Choi, Young Hun
Kim, Woo Sun
Ko, Jung Min
Moon, Jin Soo
Ko, Jae Sung
A Novel Homozygous LIPA Mutation in a Korean Child with Lysosomal Acid Lipase Deficiency
title A Novel Homozygous LIPA Mutation in a Korean Child with Lysosomal Acid Lipase Deficiency
title_full A Novel Homozygous LIPA Mutation in a Korean Child with Lysosomal Acid Lipase Deficiency
title_fullStr A Novel Homozygous LIPA Mutation in a Korean Child with Lysosomal Acid Lipase Deficiency
title_full_unstemmed A Novel Homozygous LIPA Mutation in a Korean Child with Lysosomal Acid Lipase Deficiency
title_short A Novel Homozygous LIPA Mutation in a Korean Child with Lysosomal Acid Lipase Deficiency
title_sort novel homozygous lipa mutation in a korean child with lysosomal acid lipase deficiency
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5750382/
https://www.ncbi.nlm.nih.gov/pubmed/29302509
http://dx.doi.org/10.5223/pghn.2017.20.4.263
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