Methionine and Sulfur Metabolism Disorders
Disease (OMIM Number) | Defective Proteins or Enzymes | Comments |
|---|---|---|
Homocystinuria (236200*) | Cystathionine beta-synthase | Biochemical profile: Methioninuria, homocystinuria Clinical features: Osteoporosis, scoliosis, fair complexion, ectopia lentis, progressive intellectual disability, thromboembolism Treatment: |
Methylenetetrahydrofolate reductase deficiency (236250*) | Methylenetetrahydrofolate reductase | Biochemical profile: Low to normal plasma methionine, homocystinemia, homocystinuria Clinical features: Varies from asymptomatic to microcephaly, hypotonia, seizures, gait abnormality, and intellectual disability to apnea, coma, and death Treatment: |
Homocystinuria-megaloblastic anemia (cblE; 236270*) | Methionine synthase reductase | Biochemical profile: Homocystinuria, homocystinemia, low plasma methionine, no methylmalonic aciduria, normal B12 and folate Clinical features: Feeding difficulty, growth failure, intellectual disability, ataxia, cerebral atrophy Treatment: Hydroxycobalamin, folate, L-methionine |
Homocystinuria-megaloblastic anemia (cblG; 250940*) | Methionine synthase | Same as homocystinuria-megaloblastic anemia cblE |
Hypermethioninemia (250850*) | Methionine adenosyltransferase I and III | Biochemical profile: Elevated plasma methionine Clinical features: Mainly asymptomatic, fetid breath Treatment: None needed |
Cystathioninuria (219500*) | Cystathionine gamma-lyase | Biochemical profile: Cystathioninuria Clinical features: Usually normal; intellectual disability reported Treatment: |
Sulfite oxidase deficiency (606887*) | Sulfite oxidase | Biochemical profile: Elevated urine sulfite, thiosulfate, and S-sulfocysteine; decreased sulfate Clinical features: Developmental delay, ectopia lentis, eczema, delayed dentition, fine hair, hemiplegia, infantile hypotonia, hypertonia, seizures, choreoathetosis, ataxia, dystonia, death Treatment: No effective treatment |
Molybdenum cofactor deficiency (252150*) | MOCS1A and MOCS1B proteins | Biochemical profile: Elevated urinary sulfite, thiosulfate, S-sulfocysteine, taurine, hypoxanthine, and xanthine; decreased sulfate and urate Clinical features: Similar to sulfite oxidase deficiency but also urinary stones Treatment: No effective treatment Low-sulfur diet possibly helpful in patients with milder symptoms |
Molybdopterin synthase | ||
Gephyrin | ||
* For complete gene, molecular, and chromosomal location information, see the Online Mendelian Inheritance in Man (OMIM) database. | ||