A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment

作者：Celato Andrea; Mitola Chiara; Tolve Manuela; Giannini Maria Teresa; De Leo Sabrina; Carducci Claudia; Carducci Carla; Leuzzi Vincenzo^*

来源：Brain & Development, 2013, 35(7): 675-680.

DOI：10.1016/j.braindev.2012.10.014

• Malonic aciduria
• Malonylcarnitine (C3DC)
• Malonyl-CoA decarboxylase deficiency
• Methylmalonylcarnitine (C4DC)
• Organic acidurias

Malonyl-CoA decarboxylase deficiency (MLYCD) is a rare autosomal recessive inborn error of metabolism presenting a variable clinical phenotype. We report an affected Italian male receiving an early diagnosis (8 days after birth) and a timely dietary therapy (high carbohydrate, low long chain fatty acid and medium chain triglyceride supplemented diet with L-carnitine supplementation). The boy was born at term and presented normal function of the heart (except for a tricuspid Ebstein-like dysplasia) and neurodevelopmental status. Genomic sequencing of MLYCD gene revealed two point mutations (c.672G>A, c.869C>T) not listed in the Human MLYCD Allelic Variant Database nor in Human Gene Mutation Database, responsible for a deleterious effect on protein structure and function according to a computational analysis (MuPro, SIFT, ConSEQ v1.1). At the age of 2 years he only showed a mild language and psychomotor delay, while heart functioning became normal. Brain MRI examination was normal. Thirty-five cases, including our patient, have been described to date. This is the first report concerning a malonic aciduria patient diagnosed on newborn screening and treated in a presymptomatic stage of the disease.

• 出版日期2013-8