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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

    CDD is a rare condition although >1,000 cases have been reported worldwide; 80-90% of the cases are female [4] While originally classified as an atypical variant of Rett syndrome, CDKL5 Deficiency Disorder (CDD) is an independent disorder and results from a pathogenic variant in a different gene (CDKL5 in CDD; MECP2 in Rett).

  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. Glycerol kinase - Wikipedia

    en.wikipedia.org/wiki/Glycerol_kinase

    Glycerol Kinase (alternative name, ATP:glycerol 3-phosphotransferase or Glycerokinase) adopts a ribonuclease H-like fold consisting of an alpha-beta 2-layer sandwich of CATH family 3.30.420.40. As of March 2010 [update] , there were 20 structures of this protein in the PDB, most of which are homodimeric.

  7. Inborn errors of metabolism - Wikipedia

    en.wikipedia.org/wiki/Inborn_errors_of_metabolism

    The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others . In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or due to the effects of reduced ability to synthesize essential compounds.

  8. Glycogen storage disease type 0 - Wikipedia

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

    Glycogen storage disease type 0 is a disease characterized by a deficiency in the glycogen synthase enzyme (GSY). Although glycogen synthase deficiency does not result in storage of extra glycogen in the liver, it is often classified as a glycogen storage disease because it is another defect of glycogen storage and can cause similar problems.

  9. CDKL5 - Wikipedia

    en.wikipedia.org/wiki/CDKL5

    382253 Ensembl ENSG00000008086 ENSMUSG00000031292 UniProt O76039 Q3UTQ8 RefSeq (mRNA) NM_001037343 NM_003159 NM_001323289 NM_001024624 RefSeq (protein) NP_001032420 NP_001310218 NP_003150 NP_001019795 Location (UCSC) Chr X: 18.43 – 18.65 Mb Chr X: 159.55 – 159.78 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse CDKL5 is a gene that provides instructions for making a protein called ...

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