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Summary
5,10-METHENYLTETRAHYDROFOLATE SYNTHETASE DEFICIENCY (MTHFS)
604197
OMIM = Online Medalian Inheritance of Men
15q25.1
rare
autosomal recessive
mution in the MTHFS gene
symptoms
developmental delay
epilepsy
feeding difficulties, poor feeding
hypertonia, spasticity
infections (severe or recurrent)
microcephaly (<2 SD for age)
movement disorder, hyperkinetic
myelination, incomplete, hypomyelination
onset, childhood
onset, infancy
seizures
short stature
laboratory finding
MRI, brain, abnormalities -
5-Methyltetrahydrofolate (5-MTHF) nmol/lcerebrospinal fluid
Literature
Idol RA,et al.Neurologic abnormalities in mouse models of the lysosomal storage disorders mucolipidosis II and mucolipidosis III +¦PLoS One910e1097682014