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  2. Hyperglycerolemia - Wikipedia

    en.wikipedia.org/wiki/Hyperglycerolemia

    Hyperglycerolemia, also known as glycerol kinase deficiency (GKD), is a genetic disorder where the enzyme glycerol kinase is deficient resulting in a build-up of glycerol in the body. Glycerol kinase is responsible for synthesizing triglycerides and glycerophospholipids in the body. Excess amounts of glycerol can be found in the blood and/ or ...

  3. Glycerol kinase deficiency - Wikipedia

    en.wikipedia.org/wiki/Glycerol_kinase_deficiency

    Glycerol kinase deficiency has two main causes.. The first cause is isolated enzyme deficiency. The enzyme glycerol kinase is encoded by the X-chromosome in humans. [8] It acts as a catalyst in the phosphorylation of glycerol to glycerol-3-phosphate which plays a key role in formation of triacylglycerol (TAG) and fat storage.

  4. CDKL5 deficiency disorder - Wikipedia

    en.wikipedia.org/wiki/CDKL5_deficiency_disorder

    Note: many adolescents and young adults may have CDD but were never tested since such tests were not available when they were infants. Therefore, epilepsy panels for CDD and other genes should be considered in such individuals. [8] A diagnostic ICD-10 code has been assigned to CDKL5 deficiency disorder: G40.42 (since 2020). [9]

  5. CDKL5 - Wikipedia

    en.wikipedia.org/wiki/CDKL5

    CDKL5 is a gene that provides instructions for making a protein called cyclin-dependent kinase-like 5 also known as serine/threonine kinase 9 (STK9) that is essential for normal brain development. Mutations in the gene can cause deficiencies in the protein.

  6. Inborn errors of metabolism - Wikipedia

    en.wikipedia.org/wiki/Inborn_errors_of_metabolism

    Because of the multiplicity of conditions, many different diagnostic tests are used for screening. An abnormal result is often followed by a subsequent "definitive test" to confirm the suspected diagnosis. [citation needed] Gas chromatography–mass spectrometry (GCMS) machine. Common screening tests used in the last sixty years: [citation needed]

  7. Congenital disorder of glycosylation - Wikipedia

    en.wikipedia.org/wiki/Congenital_disorder_of...

    glucosyltransferase I deficiency causes ALG6-CDG (CDG-Ic) [22] glucosyltransferase II deficiency causes ALG8-CDG (CDG-Ih). [23] Glc3Man9GlcNAc2-PP-Dol A protein with hitherto unknown activity, MPDU-1, is required for the efficient presentation of Dol-P-Man and Dol-P-Glc. Its deficiency causes MPDU1-CDG (CDG-If). [24]

  8. Inborn errors of carbohydrate metabolism - Wikipedia

    en.wikipedia.org/wiki/Inborn_errors_of...

    HFI is caused by a deficiency of fructose 1,6-biphosphate aldolase in the liver, kidney cortex and small intestine. Infants and adults are asymptomatic unless they ingest fructose or sucrose. [citation needed] Deficiency of hepatic fructose 1,6-biphosphate (FBPase) causes impaired gluconeogenesis, hypoglycemia and severe metabolic acidemia.

  9. Glycerol kinase - Wikipedia

    en.wikipedia.org/wiki/Glycerol_kinase

    Glycerol kinase, encoded by the gene GK, is a phosphotransferase enzyme involved in triglycerides and glycerophospholipids synthesis. Glycerol kinase catalyzes the transfer of a phosphate from ATP to glycerol thus forming glycerol 3-phosphate :