5,10-METHENYLTETRAHYDROFOLATE SYNTHETASE DEFICIENCY (MTHFS)

Question 1

What is  5,10-METHENYLTETRAHYDROFOLATE SYNTHETASE DEFICIENCY (MTHFS)?

Accepted Answer

rare

autosomal recessive

mution in the MTHFS gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 604197

Question 3

Which enzymes are involved?

Accepted Answer

5-formyltetrahydrofolate cyclo-ligase

Disease	5,10-METHENYLTETRAHYDROFOLATE SYNTHETASE DEFICIENCY (MTHFS)
OMIM	604197 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Protein (UniProt)	5-formyltetrahydrofolate cyclo-ligase
ExPASy	---
Gene locus	15q25.1
ICD	---
Summary	rare autosomal recessive mution in the MTHFS gene
Laboratory findings	5-Methyltetrahydrofolate (5-MTHF) dec (cerebrospinal fluid)
Symptoms	developmental delay epilepsy feeding difficulties, poor feeding hypertonia, spasticity infections (severe or recurrent) microcephaly (<2 SD for age) movement disorder, hyperkinetic movement disorder, hyperkinetic MRI, brain, abnormalities [-] myelination, incomplete, hypomyelination onset, childhood onset, infancy seizures short stature