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

doi:10.3748/wjg.v21.i3.1001

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

Medical Sciences

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Abstract

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 language	English
Pages (from-to)	1001-1008
Number of pages	8
Journal	World Journal of Gastroenterology
Volume	21
Issue number	3
DOIs	https://doi.org/10.3748/wjg.v21.i3.1001
Publication status	Published - 21 Jan 2015

Keywords

Cholesteryl ester storage disease
Dyslipidemia
Liver fibrosis
Liver steatosis
Wolman disease

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency
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Final published version, 1.82 MBLicence: CC BY-NC

Cite this

@article{2ea93f55a49447199abc3c711f6e882e,

title = "Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency",

abstract = "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.",

keywords = "Cholesteryl ester storage disease, Dyslipidemia, Liver fibrosis, Liver steatosis, Wolman disease",

author = "Yuritzi Santill{\'a}n-Hern{\'a}ndez and Enory Almanza-Miranda and Xin, {Winnie W.} and Kendrick Goss and Aurea Vera-Loaiza and {Gorr{\'a}ez-De La Mora}, {Mar{\'i}a T.} and {Pina Aguilar}, {Raul E}",

note = "We would like to thank Radhika Tripuraneni, MD, MPH, for critical reading of the manuscript, Angelica TorizOrtiz, MD, for ultrasound imaging, and the medical staff of the Endoscopy and Pathology Department of CMN “20 de Noviembre”, along with all the personnel involved in the care of the patients. This work was presented in abstract form at 2013{\textquoteright}s National Week of Gastroenterology (Semana Nacional de Gastroenterologia de la AMG) in Veracruz, Mexico and at Ⅸ Congress of SLEIMPN in Medell{\'i}n, Colombia. ",

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AU - Santillán-Hernández, Yuritzi

AU - Almanza-Miranda, Enory

AU - Xin, Winnie W.

AU - Goss, Kendrick

AU - Vera-Loaiza, Aurea

AU - Gorráez-De La Mora, María T.

AU - Pina Aguilar, Raul E

N1 - We would like to thank Radhika Tripuraneni, MD, MPH, for critical reading of the manuscript, Angelica TorizOrtiz, MD, for ultrasound imaging, and the medical staff of the Endoscopy and Pathology Department of CMN “20 de Noviembre”, along with all the personnel involved in the care of the patients. This work was presented in abstract form at 2013’s National Week of Gastroenterology (Semana Nacional de Gastroenterologia de la AMG) in Veracruz, Mexico and at Ⅸ Congress of SLEIMPN in Medellín, Colombia.

PY - 2015/1/21

Y1 - 2015/1/21

N2 - 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.

AB - 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.

KW - Cholesteryl ester storage disease

KW - Dyslipidemia

KW - Liver fibrosis

KW - Liver steatosis

KW - Wolman disease

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C2 - 25624737

AN - SCOPUS:84921479779

VL - 21

SP - 1001

EP - 1008

JO - World Journal of Gastroenterology

JF - World Journal of Gastroenterology

SN - 1007-9327

IS - 3

ER -

Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency

Abstract

Keywords

UN SDGs

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