Hypermethioninemia due to glycine N-methyltransferase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: GNMT DEFICIENCY
Glycine N-methyltransferase deficiency
Hypermethioninemia due to GNMT deficiency
Number of Symptoms 4
OrphanetNr: 289891
OMIM Id: 606664
ICD-10: E72.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of methionine cycle and sulfur amino acid metabolism
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0002910) Elevated hepatic transaminases 158 / 7739
2
(HPO:0002240) Hepatomegaly 467 / 7739
3
(HPO:0003235) Hypermethioninemia 8 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Mudd et al. (2001) reported 2 Italian sibs, a 4-year-old girl and her 9-year-old brother, with a novel form of persistent isolated hypermethioninemia without cystathionine beta-synthase deficiency (236200), tyrosinemia type I (276700), or liver disease. The children exhibited ...
Molecular genetics OMIM In the 2 Italian sibs with GNMT deficiency reported by Mudd et al. (2001), Luka et al. (2002) found compound heterozygosity for 2 missense mutations in the GNMT gene (606628.0001-606628.0002). These were the first reported cases of an ...