title: A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment.
abstract: 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 (8days 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 2years 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.
authors.affiliation: Department of Child Neurology and Psychiatry, Sapienza University of Rome, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Celato
authors.forename: Chiara
authors.initials: C
authors.lastname: Mitola
authors.forename: Manuela
authors.initials: M
authors.lastname: Tolve
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Giannini
authors.forename: Sabrina
authors.initials: S
authors.lastname: De Leo
authors.forename: Claudia
authors.initials: C
authors.lastname: Carducci
authors.forename: Carla
authors.initials: C
authors.lastname: Carducci
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Leuzzi
mesh_terms: D002262:Carboxy-Lyases / Q000172:deficiency* / Q000235:genetics; D002675:Child, Preschool; D042241:Early Diagnosis; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008316:Malonyl Coenzyme A / Q000235:genetics; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000178:diet therapy* / Q000235:genetics; D008764:Methylmalonic Acid; D009154:Mutation; D015997:Neonatal Screening
chemical_list: D008316:Malonyl Coenzyme A; D008764:Methylmalonic Acid; D002262:Carboxy-Lyases; C021532:malonyl-CoA decarboxylase