METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY (MAT, MAT1A)

Question 1

What is  METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY (MAT, MAT1A)?

Accepted Answer

rare (1:26000 - 1:105000, >60 cases)
autosomal recessive
autosomal dominant
mutation in the MAT1A gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Demyelinisierung des Gehirns durch Methionin-Adenosyltransferase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 250850

Question 4

Which enzymes are involved?

Accepted Answer

S-adenosylmethionine synthase isoform type-1

Disease	METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY (MAT, MAT1A)
Synonym	MAT I/III DEFICIENCY; HYPERMETHIONINEMIA, ISOLATED PERSISTENT
OMIM	250850 OMIM = Online Mendelian Inheritance of Men
Orphanet	168598
Protein (UniProt)	S-adenosylmethionine synthase isoform type-1
ExPASy	2.5.1.6
Gene locus	10q22.3 Detail information to gene locus by the National Center for Biotechnology Information NCBI: Methionine adenosyltransferase I, alpha
ICD	E72.1
Summary	rare (1:26000 - 1:105000, >60 cases) autosomal recessive autosomal dominant mutation in the MAT1A gene
Laboratory findings	Homocysteine normal/inc (plasma) Methionine inc (plasma) Dimethylsulfone (DMSO2) normal/inc (blood) Methionine inc (urine) Methionine adenosyltransferase dec (liver)
Symptoms	Amino acids, plasma Amino acids, urine dystonia epilepsy headache (severe, recurrent or occipital, migraine) hyperreflexia irritability mental retardation MRI, brain, white matter abnormalities [-] myelination, incomplete, hypomyelination myopathy no clinical symptoms (probably) nystagmus onset, childhood onset, infancy onset, neonatal speech development, delayed, abnormal unusual odor / odour