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Article Dans Une Revue Clinica Chimica Acta Année : 2021

Large-scale screening of lipase acid deficiency in at risk population

Armand Abergel
Bertrand Cariou
Claire Carette
Victor de Ledinghen
Florence Lacaille
Marietta Musikas
  • Fonction : Auteur
Denis Ouzan
Bruno Verges
Sabrina Vergnaud
  • Fonction : Auteur

Résumé

BACKGROUND: Lysosomal acid lipase deficiency (LALD, OMIM#278000) is a rare lysosomal disorder with an autosomal recessive inheritance. The main clinical manifestations are related to a progressive accumulation of cholesteryl esters, triglycerides or both within the lysosome in different organs such as the liver, spleen, and cardiovascular system. A wide range of clinical severity is associated with LALD including a severe very rare antenatal/neonatal/infantile phenotype named Wolman disease and a late-onset form named cholesteryl ester storage disease (CESD). METHODS: This study aimed to investigate a cohort of at-risk patients (4174) presenting with clinical or biological signs consistent with LALD using the assessment of LAL activity on dried blood spots. RESULTS: LAL activity was lower than 0.05 nmol/punch/L (cut-off: 0.12) in 19 patients including 13 CESD and 6 Wolman. Molecular study has been conducted in 17 patients and succeeded in identifying 34 mutated alleles. Fourteen unique variants have been characterized, 7 of which are novel. CONCLUSION: This study allowed to identify a series of patients and expanded the molecular spectrum knowledge of LALD. Besides, a new screening criteria grid based on the clinical/biological data from our study and the literature has been proposed in order to enhance the diagnosis rate in at risk populations.
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Dates et versions

hal-03223991 , version 1 (11-06-2021)

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Abdellah Tebani, Bénédicte Sudrié-Arnaud, Hela Boudabous, Anais Brassier, Rodolphe Anty, et al.. Large-scale screening of lipase acid deficiency in at risk population. Clinica Chimica Acta, 2021, 519, pp.64-69. ⟨10.1016/j.cca.2021.04.005⟩. ⟨hal-03223991⟩
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