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Results 1 - 7 of 7 for Homocystinuria due to CBS deficiency
  1. Homocystinuria 
    ... homocystinuria Genetic Testing Registry: Homocystinuria Genetic Testing Registry: Homocystinuria due to methylene tetrahydrofolate reductase deficiency Genetic Testing Registry: ...
    https://medlineplus.gov/genetics/condition/homocystinuria - Genetics
  2. MTRR gene 
    ... Kozich V, Zavad'akova P. CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular ...
    https://medlineplus.gov/genetics/gene/mtrr - Genetics
  3. MTHFR gene 
    ... Balcells S. Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency. Clin Genet. 2010 ...
    https://medlineplus.gov/genetics/gene/mthfr - Genetics
  4. Methylmalonic acidemia 
    ... Rare Disorders (NORD) ClinicalTrials.gov METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE; MAHCD METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY METHYLMALONIC ACIDURIA, cblA ...
    https://medlineplus.gov/genetics/condition/methylmalonic-acidemia - Genetics
  5. HCFC1 gene 
    ... the signs and symptoms of methylmalonic acidemia with homocystinuria. Neurological and developmental problems are especially severe in individuals with cblX type, in part due to disruption of the activity of other genes ...
    https://medlineplus.gov/genetics/gene/hcfc1 - Genetics
  6. MTR gene 
    ... MTR gene have been identified in people with homocystinuria. Many of these mutations lead to the production ... methionine lead to the health problems associated with homocystinuria. More About This Health Condition A specific version ( ...
    https://medlineplus.gov/genetics/gene/mtr - Genetics
  7. Hypermethioninemia 
    ... can occur with other metabolic disorders, such as homocystinuria, tyrosinemia, and galactosemia, which also involve the faulty ...
    https://medlineplus.gov/genetics/condition/hypermethioninemia - Genetics