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Results 1 - 10 of 10 for Methylmalonic aciduria homocystinuria
  1. Methylmalonic acidemia with homocystinuria 
    ... Methylmalonic acidemia and homocystinemia Methylmalonic acidemia and homocystinuria Methylmalonic aciduria and homocystinuria Vitamin B12 metabolic defect with combined deficiency of ...
    https://medlineplus.gov/...ethylmalonic-acidemia-with-homocystinuria - Genetics
  2. MMADHC gene 
    ... methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria methylmalonic aciduria and homocystinuria type D protein, mitochondrial methylmalonic aciduria and homocystinuria ...
    https://medlineplus.gov/genetics/gene/mmadhc - Genetics
  3. MMACHC gene 
    ... methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria methylmalonic aciduria and homocystinuria type C protein Tests of MMACHC PubMed METABOLISM ...
    https://medlineplus.gov/genetics/gene/mmachc - Genetics
  4. Methylmalonic acidemia 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE; MAHCD METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL- ...
    https://medlineplus.gov/genetics/condition/methylmalonic-acidemia - Genetics
  5. HCFC1 gene 
    ... as mutations) have been identified in people with methylmalonic acidemia with homocystinuria, cblX type, which is one form of a ... imbalances leads to the signs and symptoms of methylmalonic acidemia with homocystinuria. Neurological and developmental problems are especially severe in ...
    https://medlineplus.gov/genetics/gene/hcfc1 - Genetics
  6. PRDX1 gene 
    ... mutations) in the PRDX1 gene are involved in methylmalonic acidemia with homocystinuria, epi-cblC type (shortened to epi-cblC), which ... molecules leads to the signs and symptoms of methylmalonic acidemia with homocystinuria. Research suggests that PRDX1 gene variants may also ...
    https://medlineplus.gov/genetics/gene/prdx1 - Genetics
  7. Homocystinuria 
    ... REDUCTASE ACTIVITY HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE TYPE; HMAE METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE; MAHCD HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG TYPE; ...
    https://medlineplus.gov/genetics/condition/homocystinuria - Genetics
  8. LMBRD1 gene 
    ... the LMBRD1 gene have been found to cause methylmalonic acidemia with homocystinuria, cblF type, which is one form of a ... imbalances leads to the signs and symptoms of methylmalonic acidemia with homocystinuria. More About This Health Condition bA810I22.1 C6orf209 ...
    https://medlineplus.gov/genetics/gene/lmbrd1 - Genetics
  9. ABCD4 gene 
    ... the ABCD4 gene have been found to cause methylmalonic acidemia with homocystinuria, cblJ type, which is one form of a ... imbalances leads to the signs and symptoms of methylmalonic acidemia with homocystinuria. More About This Health Condition 69 kDa peroxisomal ...
    https://medlineplus.gov/genetics/gene/abcd4 - Genetics
  10. Transcobalamin deficiency 
    ... the body, resulting in metabolic conditions known as methylmalonic aciduria or homocystinuria. The prevalence of transcobalamin deficiency is unknown. At ...
    https://medlineplus.gov/genetics/condition/transcobalamin-deficiency - Genetics