ArticleBiochemia medica2015
A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD).
Article in Biochemia medica, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5 citing papers in PubMed.
- Clinical Significance of Acyl-CoA Dehydrogenase Short Chain and Its Anti-tumor Role in Hepatocellular Carcinoma by Inhibiting Canonical Wnt/β-Catenin Pathway.Digestive diseases and sciences · 2025Article
- Personalised modelling of clinical heterogeneity between medium-chain acyl-CoA dehydrogenase patients.BMC biology · 2023Article
- Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.Journal of inherited metabolic disease · 2017Review
- Novel magnetic resonance imaging findings in a patient with short chain acyl CoA dehydrogenase deficiency.Metabolic brain disease · 2017Article
- Identification and Quantitation of Malonic Acid Biomarkers of In-Born Error Metabolism by Targeted Metabolomics.Journal of the American Society for Mass Spectrometry · 2017Article
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6 authors.
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Abstract
backgroundShort-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare inherited mitochondrial fatty acid oxidation disorder associated with variations in the ACADS (Acyl-CoA dehydrogenase, C-2 to C-3 short chain) gene. SCADD has highly variable biochemical, genetic and clinical characteristics. Phenotypes vary from fatal metabolic decompensation to asymptomatic individuals. SUBJECT AND
methodsA Romani boy presented at 3 days after birth with hypoglycaemia, hypotonia and respiratory pauses with brief generalized seizures. Afterwards the failure to thrive and developmental delay were present. Organic acids analysis with gas chromatography-mass spectrometry (GS/MS) in urine and acylcarnitines analysis with liquid chromatography-tandem mass spectrometry (LC-MS/MS) in dried blood spot were measured. Deoxyribonucleic acid (DNA) was isolated from blood and polymerase chain reactions (PCRs) were performed for all exons. Sequence analysis of all exons and flanking intron sequences of ACADS gene was performed.
resultsOrganic acids analysis revealed increased concentration of ethylmalonic acid. Acylcarnitines analysis showed increase of butyrylcarnitine, C4-carnitine. C4-carnitine was 3.5 times above the reference range (<0.68 µmol/L). Confirmation analysis for organic acids and acylcarnitine profile was performed on the second independent sample and showed the same pattern of increased metabolites. Sequence analysis revealed 3-bp deletion at position 310-312 in homozygous state (c.310_312delGAG). Mutation was previously described as pathogenic in heterozygous state, while it is in homozygous state in our patient.
conclusionsIn our case clinical features of a patient, biochemical parameters and genetic data were consistent and showed definitely SCAD deficiency.
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