Malonic aciduria
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Cited by (31)
Malonyl-CoA decarboxylase deficiency: Long-term follow-up of a patient new clinical features and novel mutations
2015, Brain and DevelopmentCitation Excerpt :The elucidated structure gives us a better understanding of the various mutations in the MLYCD gene causing the deficiency [15]. Several cases have been reported in literature [7–12,16–24] regarding the metabolic crisis associated with MLYCD deficiency, albeit very little is known about the long term outcome of such cases through subsequent dietary therapy prescribed [22,24–25]. Here we describe the long term follow up of a patient affected by malonic aciduria upon neonatal onset.
A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment
2013, Brain and DevelopmentCitation Excerpt :Enzyme activity in cultured skin fibroblasts and molecular genetics are the second step for diagnosis. Nevertheless normal enzyme functioning [4,20] and normal genomic sequence [7] have been documented in few cases. A different condition has been recently identified, in which combined malonic and methylmalonic aciduria (CAMAMMA) were due to alterations in ACSF3 gene [21].
Novel compound heterozygous mutation of MLYCD in a Chinese patient with malonic aciduria
2012, Molecular Genetics and MetabolismCitation Excerpt :Clinical features noted in these patients include developmental delay (24/34), acidosis (19/34), hypoglycemia (14/34), cardiomyopathy (14/34), seizures (14/34), brain abnormalities (11/34) and hypotonia (9/34) (Table 2). Ketosis, abnormal urinary compounds, diarrhea, vomiting, short stature, abnormal genitalia and renal dysplasia were also described in some patients [3,4,16,19]. In patients with classic type of malonic aciduria, the ranges of malonic aciduria and methylmalonic acid are approximately 19–600 μmol/mmol creatinine and 5–300 μmol/mmol creatinine respectively.
Nonezymatic 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 :Succinate accumulation in malonic and methylmalonic acidemias is probably due to the competitive inhibition of SDH by malonate [14,16,26] and methylmalonate [11,14,24,38,41]. In fact, it has been shown that succinate accumulation reaches nearly 150 μM in the urine of malonic acidemic patients [31], and cerebral concentrations range between 0.5 and 8.3 mM in the white matter of patients with complex II deficiency [6]. Interestingly, white matter cerebral damage in these patients proved to be more extensive in those presenting intermediate cerebral succinate concentrations (0.5–1.3 mM) than in those presenting high cerebral succinate concentrations (3.7–8.3 mM).
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Present address: University Teaching Unit, Royal Alexandria Hospital for Children, Sydney, Australia.