Malonic aciduria
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Cited by (30)
Malonyl-CoA decarboxylase deficiency: Long-term follow-up of a patient new clinical features and novel mutations
2015, Brain and DevelopmentCitation Excerpt :Although an enormous amount of work has been done to elucidate the key roles that MLYCD plays in lipid and carbohydrates metabolism, its pathogenesis, metabolic function and subcellular localization still remains obscure [6,8,24]. So far, 34 cases with different MLYCD gene defects comprising point mutations, stop codons and frame-shift mutations have been reported in literature [8–13,16–24] Notably, Wightman et al., have reported that a point mutation in the MLYCD gene lead to protein mislocalization at the subcellular level [8]. Metabolic screening of our patient showed elevated urinary excretion of malonic acid, methylmalonic acids and malonylacylcarntines thus confirming MLYCD deficiency.
A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment
2013, Brain and DevelopmentCitation Excerpt :Patients with malonic aciduria show a variable phenotype comprising developmental delay, microcephaly, hypotonia, seizure, metabolic acidosis, hypoglycemia, cardiomyopathy and renal dysplasia. Neuroimaging studies revealed brain abnormalities characterized by malformation in cortical development and white matter involvement [4–10]. Since its first description in 1984, 34 cases and 28 disease causing mutations have been reported (see Table 1).
Novel compound heterozygous mutation of MLYCD in a Chinese patient with malonic aciduria
2012, Molecular Genetics and MetabolismNonezymatic formation of succinate in mitochondria under oxidative stress
2006, Free Radical Biology and MedicineBrain abnormalities in a case of malonyl-CoA decarboxylase deficiency
2006, Molecular Genetics and MetabolismSuccinate causes oxidative damage through N-methyl-D-aspartate-mediated mechanisms
2005, Brain ResearchCitation Excerpt :This is an important finding for different areas, particularly those concerned with the study of the succinate-accumulating conditions, such as exposure to exogenous [1,7,17,19,32,40] and endogenous [10,9,12–14,18,24,34,38] SDH inhibitor toxins and inherited deficiencies of SDH [5,6,14,30,31], because it shows that at least some of the deleterious effects of these conditions may arise from secondary succinate accumulation, a possibility that has been overlooked in the literature.
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Present address: University Teaching Unit, Royal Alexandria Hospital for Children, Sydney, Australia.