| H00148 | |
| H番号 | H00148 |
| 名称 | リソソーム酸性リパーゼ欠損症 |
| 概要 | Lysosomal acid lipase (LAL) deficiency causes autosomal recessive lysosomal storage disorders including Wolman disease and Cholesteryl ester storage disease (CESD). This disease is characterized by massive accumulation of cholesteryl ester and triglycerides. Wolman disease is the infantile form presenting in early infancy with diarrhea, massive hepatosplenomegaly, failure to thrive, and calcification of adrenal glands. Without treatment, hepatic failure and death occur within the first year of life. In CESD, hepatomegaly may be the only clinical abnormality, although lipid deposition is widespread. Although hematopoietic cell transplantation (HCT) was the only therapy, in 2015 sebelipase alfa was approved in the US and EU for the treatment of LAL deficiency. |
| カテゴリ | 先天性代謝異常症, ライソゾーム病 |
| ネットワーク | - |
| 病因遺伝子 | LIPA [HSA:3988] [KO:K01052] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | セベリパーゼアルファ [DR:D10377] |
| コメント | - |
| リンク | ICD-11: 5C56.0Y ICD-10: E75.5 MeSH: D015223 OMIM: 278000 |
| 文献 | PMID:9705237 著者 Du H, Sheriff S, Bezerra J, Leonova T, Grabowski GA タイトル Molecular and enzymatic analyses of lysosomal acid lipase in cholesteryl ester storage disease. 雑誌 Mol Genet Metab 64:126-34 (1998) DOI:10.1006/mgme.1998.2707 PMID:9367797 著者 Redonnet-Vernhet I, Chatelut M, Basile JP, Salvayre R, Levade T タイトル Cholesteryl ester storage disease: relationship between molecular defects and in situ activity of lysosomal acid lipase. 雑誌 Biochem Mol Med 62:42-9 (1997) DOI:10.1006/bmme.1997.2626 PMID:18776925 著者 Tolar J, Petryk A, Khan K, Bjoraker KJ, Jessurun J, Dolan M, Kivisto T, Charnas L, Shapiro EG, Orchard PJ タイトル Long-term metabolic, endocrine, and neuropsychological outcome of hematopoietic cell transplantation for Wolman disease. 雑誌 Bone Marrow Transplant 43:21-7 (2009) DOI:10.1038/bmt.2008.273 |