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Results 1 - 10 of 13 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. MTHFR Mutation Test: MedlinePlus Medical Test 
    ... MD): U.S. Department of Health and Human Services; Homocystinuria due to MTHFR deficiency; [updated 2021 Nov 8; cited ... from: https://rarediseases.info.nih.gov/diseases/2734/homocystinuria-due-to-mthfr-deficiency NIH U.S. National Library of ...
    https://medlineplus.gov/lab-tests/mthfr-mutation-test - Medical Tests
  3. Homocystinuria 
    ... Organization for Rare Disorders -- rarediseases.org/rare-diseases/homocystinuria-due-to-cystathionine-beta-synthase-deficiency/ HCU Network America -- ...
    https://medlineplus.gov/ency/article/001199.htm - Medical Encyclopedia
  4. 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
  5. 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
  6. 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
  7. 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
  8. Aminoaciduria 
    Increased total urine amino acids may be due to: Alkaptonuria Canavan ... acidemia Rickets Tyrosinemia type 1 Tyrosinemia type 2 ...
    https://medlineplus.gov/ency/article/003366.htm - Medical Encyclopedia
  9. Metabolic Disorders (National Library of Medicine)  
    Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive ...
    https://medlineplus.gov/metabolicdisorders.html - Health Topics
  10. 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
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