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Summary
METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY (MAT, MAT1A)
MAT I/III DEFICIENCY HYPERMETHIONINEMIA, ISOLATED PERSISTENT
250850
OMIM = Online Medalian Inheritance of Men
168598
10q22.3

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • diet
  • S-Adenosylmethionine (AdoMet)
rare (1:26000 - 1:105000, >60 cases)
autosomal recessive
autosomal dominant
mutation in the MAT1A gene
symptoms
Amino acids, plasma
Amino acids, urine
dystonia
epilepsy
headache (severe, recurrent or occipital, migraine)
hyperreflexia
irritability
mental retardation
myelination, incomplete, hypomyelination
myopathy
no consistent clinical signs or symptoms
nystagmus
onset, childhood
onset, infancy
onset, neonatal
speech development, delayed, abnormal
unusual odor / odour
laboratory finding
Methionine250.001300.0011.0030.00-Ámol/lplasma
Methionine25.00250.005.0029.00mmol/mol creatinineurine
Methionine adenosyltransferase10.0020.00 100.00% of normalliver
MRI, brain, white matter abnormalities -
Homocysteine5.0025.00 +€mol/lplasma
Dimethylsulfone (DMSO2) +€mol/lblood
Literature
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