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Summary
METHYLMALONYL-CoA EPIMERASE DEFICIENCY (MCEE)
METHYLMALONYL-CoA RACEMASE DEFICIENCY METHYLMALONIC ACIDURIA III, FORMERLY
251120
OMIM = Online Medalian Inheritance of Men
308425
3p13.3
rare (7 patients)
autosomal recessive
mutation in the MCEE gene

MCE deficiency could be considered a cause of mild and intermittent increases in methylmalonic acid [Abily-Donval L et al 2017]
symptoms
ataxia
behavior, abnormal or bizarre, confusion
dehydration
dysarthria
failure to thrive
ketosis, ketoacidosis
metabolic acidosis
no consistent clinical signs or symptoms
onset, childhood
onset, infancy
onset, neonatal
psychomotor retardation
vomiting
laboratory finding
Methylmalonic acid0.001450.00 mmol/mol Creaurine
pH7.357.08 no uniturine
Ammonia60.00100.00 +€mol/lurine
Methylcitric acid0.0083.00 mmol/mol Creaurine
Propionylcarnitine (C3)0.0022.00 +€mol/lplasma
3-Hydroxypropionic acid0.007300.00 mmol/mol Creaurine
Ketone bodies +/++urine
Propionylglycine0.0024.00 mmol/mol Creaurine
Methylmalonic acid0.005.00 +€mol/lserum
Literature
Oldani E,et al.Prenatal Diagnosis of Antley-Bixler Syndrome and POR DeficiencyAm J Case Rep160882-8852015
Ghaddhab C,et al.Premature Ovarian Failure in French Canadian Leigh SyndromeJ Pediatr1840227-2292017
Sasarman F,et al.Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh SyndromeHum Mol Genet242480-4912015
Burelle Y,et al.Mitochondrial vulnerability and increased susceptibility to nutrient-induced cytotoxicity in fibroblasts from leigh syndrome French canadian patientsPLoS One103e01207672015
Solem RC,et al.Multidisciplinary Treatment of Antley-Bixler SyndromeCleft Palate Craniofac J541100-1082017
Debray FG,et al.LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiencyJ Med Genet483183-1892011
Legault J,et al.Low-concentration methylene blue maintains energy production and strongly improves survival of Leigh syndrome French Canadian skin fibroblastsJ Pharm Pharm Sci143438-4492011
Idkowiak J,et al.Cytochrome P450 Oxidoreductase DeficiencyGeneReviews-« Internet002017