Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum

Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality. We present retrospective data from medical records of 5 Brazilian patients, showing the broad clinical spectrum of the...

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Bibliographic Details
Published inCase reports in pediatrics Vol. 2018; no. 2018; pp. 1 - 5
Main Authors Patrício, Francy Reis da Silva, Pereira, Vanessa Gonçalves, Kyosen, Sandra Obikawa, Curiati, Marco Antonio, Martins, Ana Maria
Format Journal Article
LanguageEnglish
Published Cairo, Egypt Hindawi Publishing Corporation 01.01.2018
Hindawi
Hindawi Limited
Wiley
Subjects
Acids
Age
Atherosclerosis
Case Report
Case reports
Cholesterol
Enzymes
Esters
Gastroenterology
Genes
Genetic aspects
Hepatology
Laboratories
Lipase
Liver diseases
Low density lipoprotein
Medical records
Metabolism
Mortality
Mutation
Pathology
Patients
Pediatrics
Physiological aspects
Siblings
Triglycerides
Brazil
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Summary:Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality. We present retrospective data from medical records of 5 Brazilian patients, showing the broad clinical spectrum of the disease.
Bibliography:Academic Editor: Nur Arslan
ISSN:2090-6803
2090-6811
DOI:10.1155/2018/4375434