| 词条 | D-Glyceric acidemia |
| 释义 |
| synonyms = D-glycerate kinase deficiency | name = D-Glyceric acidemia | image = Autosomal recessive - en.svg | alt = | caption = This condition is inherited in an autosomal recessive manner. | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }} D-Glyceric Acidemia (a.k.a. D-Glyceric Aciduria) is an inherited disease, in the category of inborn errors of metabolism. It is caused by a mutation in the gene GLYCTK, which encodes for the enzyme glycerate kinase. PathophysiologyGlycerate kinase is an enzyme that catalyzes the conversion of D-glyceric acid (a.k.a. D-glycerate) to 2-phosphoglycerate. This conversion is an intermediary reaction found in several metabolic pathways, including the degradation (break-down; catabolism) of serine,[1] as well as the breakdown of fructose.[2] A deficiency in glycerate kinase activity leads to the accumulation of D-glyceric acid (a.k.a. D-glycerate) in bodily fluids and tissues.[3] D-glyceric acid can be measured in a laboratory that performs "analyte testing" for "organic acids" in blood (plasma) and urine.[4] Symptoms of the disease (in its most severe form) include progressive neurological impairment, mental/motor retardation, hypotonia, seizures, failure to thrive and metabolic acidosis.[5] Related conditionsD-Glyceric Acidemia should not be confused with L-Glyceric Acidemia (a.k.a. L-glyceric aciduria, a.k.a. primary hyperoxaluria type II [https://www.ncbi.nlm.nih.gov/omim/260000]), which is associated with mutations in the GRHPR (encoding for the enzyme 'glyoxylate reductase/hydroxypyruvate reductase').[6][7]Diagnosis{{Empty section|date=November 2017}}References1. ^{{cite web |url=http://www.biochemj.org/bj/371/0653/bj3710653.htm |title=Biochem. J. (2003) 371, 653-661 - T.J. de Koning and others - l-Serine in disease and development |work= |accessdate=}} 2. ^{{cite journal |url=http://www.ajcn.org/content/58/5/788S |title=Inborn errors of fructose metabolism |journal= Am J Clin Nutr |volume=58 | page=788S |accessdate=}} 3. ^{{cite web |url=http://ghr.nlm.nih.gov/gene/GLYCTK |title=GLYCTK - glycerate kinase - Genetics Home Reference |format= |work= |accessdate=}} 4. ^{{cite web |url=https://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/clinical_disease_id/22208?db=genetests |title=GeneTests: Search Results |format= |work= |accessdate=}} 5. ^[https://www.springer.com/life+sciences/biochemistry+%26+biophysics/book/978-3-540-42542-7] 6. ^[https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ph2] 7. ^[https://www.ncbi.nlm.nih.gov/omim/604296] External links{{Medical resources| DiseasesDB = | ICD10 = E74.8 | ICD9 = | ICDO = | OMIM = 220120 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = C535767 | GeneReviewsName = | Orphanet = 941 }}
1 : Amino acid metabolism disorders |
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