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  2. Congenital lactic acidosis - Wikipedia

    en.wikipedia.org/wiki/Congenital_lactic_acidosis

    Though lactic acidosis can be a complication of other congenital diseases, when it occurs in isolation it is typically caused by a mutation in the pyruvate dehydrogenase complex genes. It has either an autosomal recessive or X-linked mode of inheritance. Congenital lactic acidosis can be caused by mutations on the X chromosome or in ...

  3. Lactic acidosis - Wikipedia

    en.wikipedia.org/wiki/Lactic_acidosis

    A significant proportion of pyruvate is converted into lactate (the blood lactate-to-pyruvate ratio is normally 10:1). The human metabolism produces about 20 mmol/kg of lactic acid every 24 hours. This happens predominantly in tissues (especially muscle) that have high levels of the "A" isoform of the enzyme lactate dehydrogenase (LDHA), which ...

  4. Lactate dehydrogenase - Wikipedia

    en.wikipedia.org/wiki/Lactate_dehydrogenase

    Reaction catalyzed by lactate dehydrogenase. Lactate dehydrogenase catalyzes the interconversion of pyruvate and lactate with concomitant interconversion of NADH and NAD +.It converts pyruvate, the final product of glycolysis, to lactate when oxygen is absent or in short supply, and it performs the reverse reaction during the Cori cycle in the liver.

  5. Glycogen storage disease type I - Wikipedia

    en.wikipedia.org/wiki/Glycogen_storage_disease...

    A typical requirement for a young child is 1.6 g/kg every 4 hours. Long-term management should eliminate hypoglycemic symptoms and maintain normal growth. Treatment should achieve normal glucose, lactic acid, and electrolyte levels, and only mild elevations of uric acid and triglycerides.

  6. MELAS syndrome - Wikipedia

    en.wikipedia.org/wiki/MELAS_syndrome

    MELAS is a condition that affects many of the body's systems, particularly the brain and nervous system (encephalo-) and muscles (myopathy). In most cases, the signs and symptoms of this disorder appear in childhood following a period of normal development. [4]

  7. Reference ranges for blood tests - Wikipedia

    en.wikipedia.org/wiki/Reference_ranges_for_blood...

    40–49 years: 1.2–2.9 [75] μg/L [5] ... Children 2-16 y: 0.1 [87] 0.6 [87] ng/dL 1.5 [86] ... Lactate dehydrogenase (LDH) 50 [23] 150 [23] U/L: 0.4 [54]

  8. Lactate dehydrogenase A - Wikipedia

    en.wikipedia.org/wiki/Lactate_dehydrogenase_A

    Lactate dehydrogenase A catalyzes the inter-conversion of pyruvate and L-lactate with concomitant inter-conversion of NADH and NAD +. LDHA is found in most somatic tissues, though predominantly in muscle tissue and tumors, and belongs to the lactate dehydrogenase family. It has long been known that many human cancers have higher LDHA levels ...

  9. Pyruvate dehydrogenase deficiency - Wikipedia

    en.wikipedia.org/wiki/Pyruvate_dehydrogenase...

    Pyruvate dehydrogenase deficiency (also known as pyruvate dehydrogenase complex deficiency or PDCD or PDH deficiency) is a rare neurodegenerative disorder associated with abnormal mitochondrial metabolism. PDCD is a genetic disease resulting from mutations in one of the components of the pyruvate dehydrogenase complex (PDC). [1]