A Case of Lysosomal Acid Lipase Deficiency Confirmed by Response to Sebelipase Alfa Therapy
| Autor: | Joseph J. Shen, Jessica L. Davis, Fred H. Laningham, Grace E. Kim, Xinying Hong, Michael H. Gelb |
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| Rok vydání: | 2020 |
| Předmět: |
medicine.medical_specialty
lysosomal acid lipase deficiency Lysosomal acid lipase deficiency Medical and Health Sciences Article chemistry.chemical_compound pathogenic variant LIPA gene Internal medicine 2.1 Biological and endogenous factors Humans Medicine Aetiology chemistry.chemical_classification Gastroenterology & Hepatology Cholesterol Ester Storage Disease business.industry Cholesterol variant of uncertain significance Wolman Disease Gastroenterology Cholesterol ester storage disease Enzyme replacement therapy Sterol Esterase medicine.disease Enzyme Endocrinology Sebelipase alfa chemistry Pediatrics Perinatology and Child Health Female Age of onset sebelipase alfa business Dyslipidemia |
| Zdroj: | J Pediatr Gastroenterol Nutr Journal of pediatric gastroenterology and nutrition, vol 71, iss 6 |
| ISSN: | 1536-4801 0277-2116 |
| DOI: | 10.1097/mpg.0000000000002870 |
| Popis: | Lysosomal acid lipase (LAL) deficiency, or cholesterol ester storage disease, is a disorder affecting the breakdown of cholesterol esters and triglycerides within lysosomes. Clinical findings include hepatomegaly, hepatic dysfunction, and dyslipidemia, with a wide range of phenotypic variability and age of onset (1-3). The available clinical and molecular information of the patient presented herein was consistent with a diagnosis of LAL deficiency, but her LAL activity assay repeatedly showed normal or borderline low results. Her response to enzyme replacement therapy (4,5) and demonstrable deficiency on a newer specific enzymatic assay (6) ultimately confirmed her diagnosis of LAL deficiency. |
| Databáze: | OpenAIRE |
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