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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

    The FDA accepted the indication and approved the first pivotal trials specifically for CDD [23] and in 2019, a diagnostic ICD-10 code was issued for CDD by the World Health Organization: G40.42. [ 24 ]

  5. ICD-10 - Wikipedia

    en.wikipedia.org/wiki/ICD-10

    ICD-10 is the 10th revision of the International Classification of Diseases (ICD), a medical classification list by the World Health Organization (WHO). It contains codes for diseases, signs and symptoms, abnormal findings, complaints, social circumstances, and external causes of injury or diseases. [1]

  6. ICD coding for rare diseases - Wikipedia

    en.wikipedia.org/wiki/ICD_coding_for_rare_diseases

    The root codes for ICD-10 and ICD-10-CM are the same, making it helpful for locating codes for general body systems and disease processes. [2] [3] In ICD-11 the search and coding of any disease, including rare ones is done via the ICD-11 website. [4] Retaining detailed information about every individual rare diseases is best done with the URI ...

  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. Glycogen storage disease type I - Wikipedia

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

    While the reason for the high prevalence of adenomas in GSD I is unclear, research since the 1970s has implicated serum glucagon as a potential driver. In studies, patients who have been put on a dietary regimen to keep blood sugar in a normal range spanning 72 to 108 mg/dL (4.0 to 6.0 mmol/L) have shown a decreased likelihood of developing ...

  9. Inborn errors of metabolism - Wikipedia

    en.wikipedia.org/wiki/Inborn_errors_of_metabolism

    Inborn errors of metabolism are often referred to as congenital metabolic diseases or inherited metabolic disorders. [2] Another term used to describe these disorders is "enzymopathies". This term was created following the study of biodynamic enzymology , a science based on the study of the enzymes and their products.

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