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Results 1 - 10 of 15 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. 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
  4. 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
  5. 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
  6. 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
  7. MTRR gene 
    ... MTRR gene have been identified in people with homocystinuria. Some of these mutations change single amino acids ... methionine lead to the health problems associated with homocystinuria. More About This Health Condition A specific version ( ...
    https://medlineplus.gov/genetics/gene/mtrr - Genetics
  8. HCFC1 gene 
    ... been identified in people with methylmalonic acidemia with homocystinuria, cblX type, which is one form of a ... the signs and symptoms of methylmalonic acidemia with homocystinuria. Neurological and developmental problems are especially severe in ...
    https://medlineplus.gov/genetics/gene/hcfc1 - Genetics
  9. PRDX1 gene 
    ... PRDX1 gene are involved in methylmalonic acidemia with homocystinuria, epi-cblC type (shortened to epi-cblC), which ... the signs and symptoms of methylmalonic acidemia with homocystinuria. Research suggests that PRDX1 gene variants may also ...
    https://medlineplus.gov/genetics/gene/prdx1 - Genetics
  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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