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Results 1 - 10 of 29 for homocystinuria
  1. Methylmalonic acidemia with homocystinuria 
    Methylmalonic acidemia with homocystinuria is a disorder in which the body is unable to correctly process certain protein building blocks (amino acids), fat building ...
    https://medlineplus.gov/...ethylmalonic-acidemia-with-homocystinuria - Genetics
  2. Homocystinuria 
    Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly. The most common form of homocystinuria, ...
    https://medlineplus.gov/genetics/condition/homocystinuria - Genetics
  3. Homocystinuria 
    Homocystinuria is a genetic disorder that affects the metabolism of the amino acid methionine. Amino acids are ... Homocystinuria is inherited in families as an autosomal recessive trait. This means that the child must inherit ...
    https://medlineplus.gov/ency/article/001199.htm - Medical Encyclopedia
  4. MMADHC gene 
    ... in the MMADHC gene cause a condition called homocystinuria, which is characterized by developmental delay, neurological problems, ... blood abnormalities. The MMADHC gene variants that cause homocystinuria result in a protein that cannot transport vitamin ...
    https://medlineplus.gov/genetics/gene/mmadhc - Genetics
  5. MMACHC gene 
    ... have been found to cause methylmalonic acidemia with homocystinuria, cblC type, the most common form of a ... the signs and symptoms of methylmalonic acidemia with homocystinuria. More About This Health Condition cblC DKFZP564I122 methylmalonic ...
    https://medlineplus.gov/genetics/gene/mmachc - Genetics
  6. Betaine 
    Betaine is used to treat homocystinuria (an inherited condition in which the body cannot break down a certain protein, causing build-up of homocysteine in the blood). ...
    https://medlineplus.gov/druginfo/meds/a608012.html - Drugs and Supplements
  7. Homocysteine Test: MedlinePlus Medical Test 
    ... to measure your vitamin B levels. Help diagnose homocystinuria . Homocystinuria is a rare, genetic disease that prevents your ... have a routine screening test to check for homocystinuria. Better understand your risk for heart attack or ...
    https://medlineplus.gov/lab-tests/homocysteine-test - Medical Tests
  8. MTHFR Mutation Test: MedlinePlus Medical Test 
    ... and urine. This causes a serious disease called homocystinuria . Symptoms usually show up in the first year ... routine screening test to check for signs of homocystinuria. Why do I need an MTHFR gene test? ...
    https://medlineplus.gov/lab-tests/mthfr-mutation-test - Medical Tests
  9. CBS gene 
    ... this pathway. More than 150 mutations that cause homocystinuria have been identified in the CBS gene. Most ... mutation, which is the most frequent cause of homocystinuria in the Irish population, replaces the amino acid ...
    https://medlineplus.gov/genetics/gene/cbs - Genetics
  10. MTHFR gene 
    ... MTHFR gene have been identified in people with homocystinuria, a disorder in which the body is unable ... learning problems. Most of the mutations that cause homocystinuria change single amino acids in methylenetetrahydrofolate reductase. These ...
    https://medlineplus.gov/genetics/gene/mthfr - Genetics
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