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Results 1 - 10 of 19 for LACTIC "ACID," "L-"
  1. Pyruvate dehydrogenase deficiency 
    ... M, Rodenburg RJ, Teszas A, van den Heuvel L, Kosztolanyi G, Morava E. Females with PDHA1 gene mutations: a diagnostic challenge. Mitochondrion. 2006 Jun;6(3):155-9. doi: 10.1016/j.mito.2006.03.001. Epub 2006 May 19. Citation on PubMed
    https://medlineplus.gov/.../pyruvate-dehydrogenase-deficiency - Genetics
  2. Pyruvate carboxylase deficiency 
    ... carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in ... features include developmental delay and a buildup of lactic acid in the blood (lactic acidosis). Increased acidity in ...
    https://medlineplus.gov/.../pyruvate-carboxylase-deficiency - Genetics
  3. Hyperprolinemia 
    ... that cause elevated levels of a chemical called lactic acid in the blood (lactic acidosis) may have hyperprolinemia as well, because lactic acid stops (inhibits) the breakdown of proline. It is ...
    https://medlineplus.gov/genetics/condition/hyperprolinemia - Genetics
  4. ACAD9 deficiency 
    ... individuals have a buildup of a chemical called lactic acid in the body (lactic acidosis). Additional signs and ... improvement in muscle strength and a reduction in lactic acid levels with treatment. The prevalence of ACAD9 deficiency ...
    https://medlineplus.gov/genetics/condition/acad9-deficiency - Genetics
  5. Pearson syndrome 
    ... buildup in the body of a chemical called lactic acid (lactic acidosis), which can be life-threatening. In addition, ...
    https://medlineplus.gov/genetics/condition/pearson-syndrome - Genetics
  6. Dihydrolipoamide dehydrogenase deficiency 
    ... deficiency is a potentially life-threatening buildup of lactic acid in tissues (lactic acidosis), which can cause nausea, vomiting, severe breathing ...
    https://medlineplus.gov/...dihydrolipoamide-dehydrogenase-deficiency - Genetics
  7. GRACILE syndrome 
    ... syndrome have a buildup of a chemical called lactic acid in the body (lactic acidosis). They also have kidney problems that lead to an excess of molecules called amino acids in the urine (aminoaciduria). Babies with GRACILE syndrome ...
    https://medlineplus.gov/genetics/condition/gracile-syndrome - Genetics
  8. MEGDEL syndrome 
    ... childhood; and episodes of abnormally high amounts of lactic acid in the blood (lactic acidosis).The life expectancy of individuals with MEGDEL ...
    https://medlineplus.gov/genetics/condition/megdel-syndrome - Genetics
  9. FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome 
    ... syndrome have a buildup of a chemical called lactic acid in the body (lactic acidosis), and about half of individuals have an ... FBXL4 defects are common in patients with congenital lactic acidemia and ... CA, Srinivasan S, Gorza M, Kremer LS, Wieland T, Strom TM, Polyak E, Place E, ...
    https://medlineplus.gov/...thic-mitochondrial-dna-depletion-syndrome - Genetics
  10. Childhood myocerebrohepatopathy spectrum 
    ... of this condition is a toxic buildup of lactic acid in the body (lactic acidosis). Often, affected children are unable to gain ...
    https://medlineplus.gov/.../childhood-myocerebrohepatopathy-spectrum - Genetics
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