Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency

Yuritzi Santillán-Hernández, Enory Almanza-Miranda, Winnie W. Xin, Kendrick Goss, Aurea Vera-Loaiza, María T. Gorráez-De La Mora, Raul E Pina Aguilar*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

15 Citations (Scopus)
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Lysosomal acid lipase (LAL) deficiency is an underrecognized lysosomal disease caused by deficient enzymatic activity of LAL. In this report we describe two affected female Mexican siblings with early hepatic complications. At two months of age, the first sibling presented with alternating episodes of diarrhea and constipation, and later with hepatomegaly, elevated transaminases, high levels of total and low-density lipoprotein cholesterol, and low levels of highdensity lipoprotein. Portal hypertension and grade 2 esophageal varices were detected at four years of age. The second sibling presented with hepatomegaly, elevated transaminases and mildly elevated lowdensity lipoprotein and low high-density lipoprotein at six months of age. LAL activity was deficient in both patients. Sequencing of LIPA revealed two previously unreported heterozygous mutations in exon 4: c.253C>A and c.294C>G. These cases highlight the clinical continuum between the so-called Wolman disease and cholesteryl ester storage disease, and underscore that LAL deficiency represents a single disease with a degree of clinical heterogeneity.

Original languageEnglish
Pages (from-to)1001-1008
Number of pages8
JournalWorld Journal of Gastroenterology
Issue number3
Publication statusPublished - 21 Jan 2015


  • Cholesteryl ester storage disease
  • Dyslipidemia
  • Liver fibrosis
  • Liver steatosis
  • Wolman disease


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