ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2007
A new case of short-chain acyl-CoA dehydrogenase deficiency: clinical, biochemical, genetic and (1)H-NMR spectroscopic studies.
Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 8 citations in OpenAlex.
- A pilot study on machine learning approach to delineate metabolic signatures in intellectual disability.International journal of developmental disabilities · 2019Article
- Neurochemical evidence that lysine inhibits synaptic Na+,K+-ATPase activity and provokes oxidative damage in striatum of young rats in vivo.Neurochemical research · 2011Article
- Inhibition of creatine kinase activity by lysine in rat cerebral cortex.Metabolic brain disease · 2009Article
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Abstract
Short-chain-acyl-CoA-dehydrogenase (SCAD) deficiency is an inborn error of mitochondrial fatty acid metabolism caused by rare mutations as well as common susceptibility variations in the SCAD gene. We describe the case of a 23-year-old male patient who had growth and mental retardation, recurrent vomiting, fever and seizures since infancy. Urinary gas chromatography and (1)H-nuclear magnetic resonance showed elevated levels of ethylmalonic acid. Serum concentrations of acylcarnitine, especially butyrylcarnitine (C4), were abnormally high. A homozygous variant allele of the SCAD gene, 625G>A, was detected. The patient broadens the clinical phenotype of SCAD deficiency and underlines the difficulty of diagnosis. The limited number of patients described may be the result of underdiagnosis.
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