Malonic aciduria

Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).

Short stature

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).


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PMID (PMCID)
22104738
 MALE Infant, Newborn
Novel compound heterozygous mutation of MLYCD in a Chinese patient with malonic aciduria.
Xue J, Peng J, Zhou M, Zhong L, Yin F, Liang D, Wu L.
Mol Genet Metab. 2012;105(1):79-83.
A 3-year-old Chinese boy presented with prominent clinical features of malonic aciduria, including developmental delay, short stature, brain abnormalities and massive excretion of malonic acid and methylmalonic acid.