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Summary
METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE
MENTAL RETARDATION, X-LINKED 3 MRX3
309541
OMIM = Online Medalian Inheritance of Men
369962
Xq28
rare
X-linked recessive
mutation in the host cell factor C1 gene
symptoms
brachycephaly
chorea or athetosis
epilepsy
failure to thrive
hypotonia
mental retardation
microcephaly (<2 SD for age)
onset, infancy
psychomotor retardation
seizures
short stature
laboratory finding
Methylmalonic acid increasedurine
Methylmalonic acid increasedserum
Homocysteine increasedserum
EEG abnormalities -
Glycine normal-increasedcerebrospinal fluid
Literature
Al Mutairi F,et al.A lethal neonatal phenotype of mitochondrial short-chain enoyl-CoA hydratase-1 deficiencyClin Genet914629-6332016
Bari-รง I,et al.Glycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders?JIMD Rep310101-1062017
Mahajan A,Constantinou J, Sidiropoulos CECHS1 deficiency-associated paroxysmal exercise-induced dyskinesias: case presentation and initial benefit of interventionJ Neurol2641185-1872017
Bastug O,et al.A rare cause of opistotonus fumaric aciduria: The first case presentation in TurkeyTurk Pediatri Ars49174-762014
Carrasco M,et al.Glycine N-methyltransferase expression in the hippocampus and its role in neurogenesis and cognitive performanceHippocampus247840-8522014