METHYLMALONYL-CoA EPIMERASE DEFICIENCY (MCEE)

Question 1

What is  METHYLMALONYL-CoA EPIMERASE DEFICIENCY (MCEE)?

Accepted Answer

rare (7 patients)

autosomal recessive

mutation in the MCEE gene

MCE deficiency could be considered a cause of mild and intermittent increases in methylmalonic acid [Abily-Donval L et al 2017]

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 251120

Question 3

Which enzymes are involved?

Accepted Answer

Methylmalonyl-CoA epimerase, mitochondrial

Disease	METHYLMALONYL-CoA EPIMERASE DEFICIENCY (MCEE)
Synonym	METHYLMALONYL-CoA RACEMASE DEFICIENCY; METHYLMALONIC ACIDURIA III, FORMERLY
OMIM	251120 OMIM = Online Mendelian Inheritance of Men
Orphanet	308425
Protein (UniProt)	Methylmalonyl-CoA epimerase, mitochondrial
Gene locus	3p13.3
ICD	E71.1
Summary	rare (7 patients) autosomal recessive mutation in the MCEE gene MCE deficiency could be considered a cause of mild and intermittent increases in methylmalonic acid [Abily-Donval L et al 2017]
Laboratory findings	Ammonia normal/inc (urine) Methylmalonic acid normal/inc (serum) Propionylcarnitine (C3) normal/inc (plasma) 3-Hydroxypropionic acid normal/inc (urine) Ketone bodies (urine) normal/inc (urine) Methylcitric acid normal/inc (urine) Methylmalonic acid inc (urine) pH normal/dec (urine) Propionylglycine normal/inc (urine)
Symptoms	ataxia behavior, abnormal or bizarre, confusion dehydration dysarthria failure to thrive ketosis, ketoacidosis metabolic acidosis no clinical symptoms (probably) onset, childhood onset, infancy onset, neonatal psychomotor retardation vomiting