Brain demyelination due to methionine adenosyltransferase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: HYPERMETHIONINEMIA, ISOLATED PERSISTENT
Methionine adenosyltransferase deficiency
mat deficiency
mat i/iii deficiency
Number of Symptoms 11
OrphanetNr: 168598
OMIM Id: 250850
ICD-10: E72.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
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
Neurometabolic disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0011096) Peripheral demyelination 28 / 7739
2
(HPO:0001347) Hyperreflexia 363 / 7739
3
(HPO:0001332) Dystonia 197 / 7739
4
(HPO:0001249) Intellectual disability Occasional [HPO:probinson] 1089 / 7739
5
(HPO:0003235) Hypermethioninemia 8 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
(OMIM) Increased serum methionine 2 / 7739
8
(HPO:0007305) CNS demyelination 21 / 7739
9
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
10
(OMIM) Fetid breath due to increased dimethylsulfide 1 / 7739
11
(OMIM) Neurologic involvement is rare 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Methionine adenosyltransferase deficiency is an inborn error of metabolism resulting in isolated hypermethioninemia. Most patients have no clinical abnormalities, although some neurologic abnormalities have been reported in rare cases with severe loss of enzyme activity (Mudd et al., ...
Clinical Description OMIM Gaull and Tallan (1974) reported a female infant with hypermethioninemia detected by newborn screening. Liver biopsy showed a deficiency of methionine adenosyltransferase. A case reported earlier in abstract may have represented this disorder (Hug et al., 1968). Mudd ...
Genotype-Phenotype Correlations OMIM In 2 patients with complete MAT deficiency and neurologic features reported by Surtees et al. (1991) and Mudd et al. (1995), Chamberlin et al. (1996) identified homozygous truncating mutations in the MAT1A gene (610550.0005; 610550.0006). The results suggested ...
Molecular genetics OMIM In 3 unrelated patients with MAT deficiency, Ubagai et al. (1995) identified homozygous or compound heterozygous mutations in the MAT1A gene (610550.0001-610550.0004). Two of the patients had been reported by Gaull et al. (1981). Ubagai et al. (1995) ...