2014
DOI: 10.1016/j.atherosclerosis.2014.04.003
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Lysosomal acid lipase deficiency – An under-recognized cause of dyslipidaemia and liver dysfunction

Abstract: Lysosomal acid lipase deficiency (LAL-D) is a rare autosomal recessive lysosomal storage disease caused by deleterious mutations in the LIPA gene. The age at onset and rate of progression vary greatly and this may relate to the nature of the underlying mutations. Patients presenting in infancy have the most rapidly progressive disease, developing signs and symptoms in the first weeks of life and rarely surviving beyond 6 months of age. Children and adults typically present with some combination of dyslipidaemi… Show more

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Cited by 257 publications
(302 citation statements)
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“…Wolman disease is caused by mutations in the LIPA gene, localized on chromosome 10 (10q23.31) [2] [3]. The LIPA gene encodes an enzyme called lysosomal acid lipase (LAL) (EC: 3.1.1.13), which plays a key role in hydrolysis of the cholesteryl esters and triglycerides into free cholesterol and free fatty acids [4].…”
Section: Introductionmentioning
confidence: 99%
“…Wolman disease is caused by mutations in the LIPA gene, localized on chromosome 10 (10q23.31) [2] [3]. The LIPA gene encodes an enzyme called lysosomal acid lipase (LAL) (EC: 3.1.1.13), which plays a key role in hydrolysis of the cholesteryl esters and triglycerides into free cholesterol and free fatty acids [4].…”
Section: Introductionmentioning
confidence: 99%
“…Total cholesterol, LDL-C, VLDL-C, and triglycerides are elevated, and HDL-C is reduced. 1,4,5 Pediatric patients have shown LDL-C ≥ 130 mg/dL and HDL-C ≤ 45 mg/dL. 11 Cerebral infarction and hyperlipidemia have been reported at 13 years old, with symptomatic gallbladder dysfunction 16 ( Table 1).…”
Section: Clinical Manifestationsmentioning
confidence: 99%
“…11,12 Clinical and biochemical manifestations are consistent with other cardiovascular, liver or metabolic diseases. 1,12 LAL-D should be included in the list of differential diagnoses of liver conditions and dyslipidemias. Given its severe morbidity and early mortality, patients should In the liver: 2-10 times higher than normal In the spleen: 8-100 times higher than normal In the adrenal glands: 1.5-8 times higher than normal 1.5-3 times higher than normal be diagnosed quickly, before any permanent damage occurs (in the liver, spleen, digestive tract, vascular system).…”
Section: Differential Diagnosismentioning
confidence: 99%
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“…FH-like phenotypes with a recessive transmission are extremely rare. This group of disorders includes the classic autosomal recessive hypercholesterolemia (ARH) caused by mutations in LDLRAP1 gene [7], sitosterolemia caused by mutations in ABCG5/ABCG8 genes [8], and lysosomal acid lipase deficiency (LAL-D) due to mutations in LIPA gene [9].…”
Section: Introductionmentioning
confidence: 99%