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Article

Lysosomal acid lipase deficiency in all siblings of the same parents.

Journal of clinical lipidology - 1 Jan 2000

Maciejko James J, Anne Premchand, Raza Saleem, Lyons Hernando J

Abstract excerpt

We present 4 normal-weight sibling children with lysosomal acid lipase deficiency (LAL-D). LAL-D was considered in the differential diagnosis based on the absence of secondary causes and primary inherited traits for their marked hyperlipidemia, together with unexplained hepatic transaminase elevation. Residual lysosomal acid lipase activity confirmed the diagnosis. DNA sequencing of LIPA indicated that the...

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Source

Identifiers

PMID: 28502515
DOI: 10.1016/j.jacl.2017.02.006

Genes

LIPA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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