Article

Novel ACSL5 Gene Mutation Causing Failure to Thrive: A Case Report

2024-11-18

Abstract excerpt

<title>Abstract</title> <p>Failure to thrive (FTT) in pediatrics is often attributed to various factors, including genetic anomalies. Acyl-CoA synthetase long-chain 5 (ACSL5), a critical player in fatty acid metabolism, has emerged as a candidate in monogenic causes of FTT. This case report presents a female infant with severe FTT, whose clinical course was marked by abnormal growth, gastrointestinal symptoms, an...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: b1def932-8202-5ad5-8096-55401b805895
DOI: 10.21203/rs.3.rs-5356198/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Novel ACSL5 Gene Mutation Causing Failure to Thrive: A Case ReportDOI 10.21203/rs.3.rs-5356198/v1Read

Deficiency of acyl-CoA synthetase 5 is associated with a severe and treatable failure to thrive of neonatal onset.Semantic proximity Read

Clinical, biochemical and molecular characterization of newborns with fatty acid β-oxidation disorders: new variants in the<i>ACADM</i>,<i>ACADVL</i>and<i>SLC22A5</i>genesSemantic proximity Read

Clinical, Biochemical and Molecular Characterisation of Newborns With Fatty Acid β-Oxidation Disorders: Novel Variants in the ACADM , ACADVL and SLC22A5 Genes.Semantic proximity Read

A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature.Semantic proximity Read

Clinical Presentation of a Child With a Novel ALMS1 Variant Associated With Alström Syndrome and Favorable Response to GLP-1 Receptor Agonist Therapy.Semantic proximity Read

Zellweger Syndrome: A Case Report.Semantic proximity Read

Neonatal-onset multiple acyl-CoA dehydrogenase deficiency (MADD) in the ETFDH gene: A case report and a literature review.Semantic proximity Read

Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family.Semantic proximity Read

Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.Semantic proximity Read

Ichthyosis prematurity syndrome caused by a novel fatty acid transport protein 4 gene mutation in a German infant.Semantic proximity Read

Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations.Semantic proximity Read

Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome.Semantic proximity Read