Methionine adenosyltransferase I/III deficiency
Synonyms: MAT I/III deficiency · Mudd's disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare inborn error of metabolism characterized by persistently elevated serum methionine levels. Half of patients reported with MAT I/III deficiency, notably those with hypermethioninemia below 800 µM, have no CNS abnormalities and are clinically asymptomatic. However, individuals with higher levels might show evidence of central nervous system abnormalities, most notably hypo- or demyelination on brain MRI, as well as developmental delay and intellectual disability. Bad breath or a strong smell of urine and sweat may be noted in some patients.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Methionine adenosyltransferase I/III deficiency | MAT I/III deficiency · Mudd's disease |
| fr | Déficit en méthionine adénosyltransférase I/III | Déficit en MAT I/III · Maladie de Mudd |
| de | Methionin-Adenosyltransferase I/III-Mangel | MAT I/III-Defizienz · MAT I/III-Mangel · MAT-Mangel · Methionin-Adenosyltransferase-Mangel |
| es | Deficiencia de metionina adenosiltransferasa I/IIII | Deficiencia de MAT I/III · Enfermedad de Mudd |
| it | Deficit di metionina adenosiltransferasi I/III | Deficit di MAT I/III |
| nl | Deficiëntie van methionine-adenosyltransferase I/III | MAT I/III-deficiëntie · Ziekte van Mudd |
| pt | Deficiência de metionina adenosiltransferase I/III | Deficiência MAT I/III · Doença Mudd |
| pl | Demielinizacja mózgu z powodu niedoboru adenozylotransferazy metioniny | Niedobór adenozylotransferazy metioniny · Niedobór MAT · Niedobór MAT I/III · Niedobór adenozylotransferazy metioninowej I/III |
| cs | Demyelinizace mozku způsobená deficitem methionin adenosyltransferázy | Deficit MAT I/III · Deficit MAT · Deficit methionin adenosyltransferázy |
| uk | Дефіцит метіонінаденозилтрансферази I/III | Дефіцит МАТ I/III · Хвороба Мадда |
| zh | 蛋氨酸腺苷转移酶缺乏所致脑脱髓鞘 | 蛋氨酸腺苷转移酶缺乏症 |
| tr | Metiyonin adenosiltransferaz eksikliğine bağlı beyin demiyelinizasyonu | MAT eksikliği · MAT I/III eksikliği · Metiyonin adenosiltransferaz eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 250850 | E | validated | |
| ICD-10 | E72.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.B | NTBT | index | validated |
| MONDO | 0009607 | E | validated | |
| MONDO | 9607 | E | validated | |
| UMLS | C0268621 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:79173Disorder of methionine cycle and sulfur amino acid metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MAT1A | Disease-causing germline mutation(s) in | Assessed | HGNC:6903 | ENSG00000151224 | 610550 | 10q22.3 | methionine adenosyltransferase 1A | 22951388[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 8770875[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8770875[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/168598
- This record as JSON: /data/d/168598.json