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hypermethioninemia
Genetics:
- autosomal recessive > autosomal dominant
- associated with defects in AHCY, MAT1A, GNMT
Clinical manifestations:
- fetid breath & dimethylsulfide
- clinical consequences are poorly understood
- in some individuals, hypermethioninemia is apparently benign
- in others, association of neurological problems with null mutations has been observed
Laboratory:
- elevated levels of methionine in serum/plasma
- dimethylsulfide excretion (expired air)
- adenosylhomocysteine hydrolase in erythrocytes low to absent
Specific
glycine N-methyltransferase deficiency (GNMT deficiency)
General
amino acid inborn error of metabolism
Database Correlations
OMIM 180960
MORBIDMAP 180960
References
OMIM :accession 180960