In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: evidence for a defect in general acyl-CoA dehydrogenase
References (30)
- et al.
Non-ketotic C6-C10-dicarboxylic aciduria: biochemical investigations of two cases
Clin Chim Acta
(1980) - et al.
Suberylglycine excretion in the urine from a patient with dicarboxylic aciduria
Clin Chim Acta
(1976) - et al.
Dicarboxylic aciduria: The response to fasting
Clin Chim Acta
(1979) - et al.
Protein measurement with the Folin phenol reagent
J Biol Chem
(1951) - et al.
Enzymes of fatty acid metabolism, I
J Biol Chem
(1956) - et al.
The purification and some properties of electron transfer flavoprotein and general fatty acyl-CoA dehydrogenase from pig liver mitochondria
J Biol Chem
(1975) - et al.
Studies on glutaryl-CoA dehydrogenase in leucocytes, fibroblasts and amniotic fluid cells. The normal enzyme and the mutant form in patients with glutaric aciduria
Clin Chim Acta
(1978) Acyl-CoA dehydrogenases and electron-transferring flavoprotein
Methods Enzymol
(1978)Acyl-CoA dehydrogenases from pig liver mitochondria
Methods Enzymol
(1981)- et al.
Glutaric aciduria type II
J Pediatr
(1980)
Intermittent non-ketotic dicarboxylic aciduria in two siblings with hypoglycaemia: an apparent defect in β-oxidation of fatty acids
J Inher Metab Dis
Profiles in altered metabolism III: ω-1-hydroxyacid excretion in a case of episodic hypoglycemia
Biomed Mass Spectrom
Acyl-coenzyrne A dehydrogenases
Biochemical effects of the hypoglycaemic compound penta-4-enoic acid and related non-hypoglycaemic fatty acids
Biochem J
The hydration of unsaturated compounds
J Am Chem Soc
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Essential oils can cause false-positive results of medium-chain acyl-CoA dehydrogenase deficiency
2020, Molecular Genetics and Metabolism ReportsCitation Excerpt :It occurs in 1/100,000 Japanese newborns; an incidence 10-fold less than in Caucasian [2]. MCAD deficiency can cause a decompensated metabolic state via febrile and intercurrent illness combined with energy deficiency or vomiting [3,4]. The metabolic attack may lead to death.
Role of mitochondrial acyl-CoA dehydrogenases in the metabolism of dicarboxylic fatty acids
2020, Biochemical and Biophysical Research CommunicationsCitation Excerpt :Some studies have supported a dominant role for mitochondria, others for peroxisomes [19,20]. Patients with either mitochondrial or peroxisomal FAO deficiencies display increased urinary excretion of DCAs [21,22]. Stimulating omega oxidation and endogenous DCA formation may be an attractive strategy for preventing fatty acid overload in the liver, and exogenous DCAs may be useful for diabetes and the metabolic syndrome, but before these mechanisms can be leveraged it needs to be determined which organelles and enzymes are required for DCA catabolism.
Screening of MCAD deficiency in Japan: 16 years' experience of enzymatic and genetic evaluation
2016, Molecular Genetics and MetabolismCitation Excerpt :Medium-chain acyl-CoA dehydrogenase (MCAD; EC 1.3.8.7) deficiency is one of the most representative disorders of the fatty acid oxidation system (FAOD), which in infants and young children can lead to hypoglycemia, Reye-like encephalopathy and, in worst cases, cardiopulmonary arrest. Since the first case report on the condition in 1982 [1], followed by the cloning of the ACADM gene in 1989 [2], MCAD deficiency emerged as a cause of sudden infantile death with an unexpectedly high incidence among populations of European descent, which was due to the prevalent variant c.985A > G (p.K329E) [3–6]. These findings led to newborn screening (NBS) of this potentially fatal disease, and the introduction of tandem mass spectrometry (MS/MS) has enabled detection of affected patients by analyzing the profile of acylcarnitines in dried blood specimens (DBS).
MCAD deficiency in Denmark
2012, Molecular Genetics and MetabolismCitation Excerpt :Moreover, by determining the mutational spectrum in the clinically detected children, we expected to identify clinically important mutations, which can be used diagnostically in asymptomatic newborns detected by screening. The first patient with MCAD deficiency was diagnosed in Denmark already in 1976 [1], and in 1982 the first MCAD enzyme assay was reported by a Danish group [35]. The awareness of the clinical manifestations of patients with MCAD deficiency has thus for historical reasons been high in Denmark.
In situ assay of fatty acid β-oxidation by metabolite profiling following permeabilization of cell membranes
2012, Journal of Lipid ResearchDisorders of Fatty Acid Oxidation in the Era of Tandem Mass Spectrometry in Newborn Screening
2008, Newborn and Infant Nursing Reviews