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Results 1 - 10 of 23 for "Methylmalonic%acidemia"
  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. Methylmalonic acidemia 
    Methylmalonic acidemia is a group of inherited disorders that prevent the body from breaking down proteins and fats (lipids) properly. The effects of methylmalonic acidemia, which usually appear in early infancy, vary from ...
    https://medlineplus.gov/genetics/condition/methylmalonic-acidemia - Genetics
  3. Methylmalonic acidemia 
    Methylmalonic acidemia is a disorder in which the body cannot break down certain proteins and fats. The result ... condition may die before it is ever diagnosed. Methylmalonic acidemia affects boys and girls equally.
    https://medlineplus.gov/ency/article/001162.htm - Medical Encyclopedia
  4. Combined malonic and methylmalonic aciduria 
    ... condition. CMAMMA Genetic Testing Registry: Combined malonic and methylmalonic acidemia Combined malonic and methylmalonic acidemia National Organization for ...
    https://medlineplus.gov/...mbined-malonic-and-methylmalonic-aciduria - Genetics
  5. MMUT gene 
    ... MMUT gene have been identified in people with methylmalonic acidemia, a condition characterized by feeding difficulties, developmental delay, ... and tissues, causing the signs and symptoms of methylmalonic acidemia.Mutations that prevent the production of any functional ...
    https://medlineplus.gov/genetics/gene/mmut - Genetics
  6. MMAA gene 
    ... the MMAA gene have been found to cause methylmalonic acidemia, a condition characterized by feeding difficulties, developmental delay, ... leads to the serious medical problems associated with methylmalonic acidemia. Studies suggest that without the activity of this ...
    https://medlineplus.gov/genetics/gene/mmaa - Genetics
  7. Methylmalonic Acid (MMA) Test: MedlinePlus Medical Test 
    ... deficiency. This test is also used to diagnose methylmalonic acidemia, a rare genetic disorder . Symptoms of this disorder ... MMA, it may mean he or she has methylmalonic acidemia. Left untreated, it can cause life-threatening complications. ...
    https://medlineplus.gov/lab-tests/methylmalonic-acid-mma-test - Medical Tests
  8. MMAB gene 
    ... the MMAB gene have been found to cause methylmalonic acidemia, a condition characterized by feeding difficulties, developmental delay, ... and tissues, causing the signs and symptoms of methylmalonic acidemia. More About This Health Condition ATP:Cob(I) ...
    https://medlineplus.gov/genetics/gene/mmab - Genetics
  9. HCFC1 gene 
    ... as mutations) have been identified in people with methylmalonic acidemia with homocystinuria, cblX type, which is one form ... imbalances leads to the signs and symptoms of methylmalonic acidemia with homocystinuria. Neurological and developmental problems are especially ...
    https://medlineplus.gov/genetics/gene/hcfc1 - Genetics
  10. PRDX1 gene 
    ... mutations) in the PRDX1 gene are involved in methylmalonic acidemia with homocystinuria, epi-cblC type (shortened to epi- ... molecules leads to the signs and symptoms of methylmalonic acidemia with homocystinuria. Research suggests that PRDX1 gene variants ...
    https://medlineplus.gov/genetics/gene/prdx1 - Genetics
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