Approximately 15% of affected individuals present before age four to six months with severe disease including nephrocalcinosis; 55% present in childhood or early adolescence with symptomatic nephrolithiasis; and the remainder present in adulthood with [ncbi.nlm.nih.gov]

D-glycerate kinase deficiency D-glyceric acidemia Prevalence: Unknown Inheritance: Autosomal recessive Age of onset: All ages ICD-10: E74.8 OMIM: 220120 UMLS: C1291386 MeSH: C535767 GARD: 234 MedDRA: - The documents contained in this web site are presented [orpha.net]

Acronym D-GA Synonyms D-glyceric acidemia Glycerate kinase deficiency Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

Our work has revealed mutations in the GLYCTK gene as the cause of D-glycerate kinase deficiency and D-glyceric aciduria and provides a noninvasive approach for further diagnostic workup and research. [ncbi.nlm.nih.gov]

Our work has revealed mutations in the GLYCTK gene as the cause of D‐glycerate kinase deficiency and D‐glyceric aciduria and provides a noninvasive approach for further diagnostic workup and research. [scipers.com]

Other proposed trials include the use of inhibitors of glycolate oxidase (ALN-GO1) to reduce the amount of glyoxylate produced, although this treatment would be mainly relevant to treatment of individuals with PH1. [ncbi.nlm.nih.gov]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

545 Dialysis ultrafiltration and hemofiltration 555 Use of drugs in uremia and dialysis 567 Donor and recipient selection in renal transplantation 587 Immunosuppression and treatment of rejection in renal transplantation 595 XIII 606 Renal tubular and [books.google.com]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

Early indicators of prognosis in fulminant hepatic failure. Gastroenterology 1989;97:439—445 ‏ الصفحة 99 - low blood pressure, volume replenishment is the first line of approach. [books.google.com]

The other 4 affected patients were free of symptoms, suggesting that HP2 may be a much milder disease with a better long-term prognosis for renal function than HP1 (259900). [ncbi.nlm.nih.gov]

Causes Differentiating D-Glyceric acidemia from Other Diseases Epidemiology and Demographics Risk Factors Screening Natural History, Complications, and Prognosis Diagnosis Diagnostic Criteria History and Symptoms Physical Examination Laboratory Findings [wikidoc.org]

REFERENCES Bonham JR, Stephenson TJ, Carpenter KH, et al (1990) D -( )-Glyceric aciduria: etiology and clinical consequences. Pediatr Res 28 : 38–44. [link.springer.com]

Zusatzmaterial Literatur Bonham JR, Stephenson TJ, Carpenter KH, Rattenbury JM, Cromby CH, Pollitt RJ, Hull D (1990) D( )-glyceric aciduria: etiology and clinical consequences. [springermedizin.de]

D( )-Glyceric Aciduria: Etiology and Clinical Consequences. Pediatr Res 28: 38-41. [ Links ] BRANDT NJ, BRANDT S, RASMUSSEN K AND SCHNOHEYDER F. 1974. Hyperglycericacidaemia with hyperglycinaemia: a new inborn error of metabolism. [scielo.br]

D-Glyceric acidura Bonham JR, Stephenson TJ, Carpenter KH, Rattenbury JM, Cromby CH, Pollitt RJ, Hull D: D( )-glyceric aciduria: etiology and clinical consequences. [hmdb.ca]

Metabolic syndrome and bariatric surgery in stone disease etiology. Curr Opin Urol. 2011; 21 :129–33. [ PubMed : 21191301 ] Wachter R, Schulze MR, Schmeisser A, Fischer R, Strasser RH. Cardiomyopathy resulting from primary hyperoxaluria type II. [ncbi.nlm.nih.gov]

Relevant External Links for GLYCTK Genetic Association Database (GAD) GLYCTK Human Genome Epidemiology (HuGE) Navigator GLYCTK Atlas of Genetics and Cytogenetics in Oncology and Haematology: GLYCTK No data available for Genatlas for GLYCTK Gene Isolation [genecards.org]

Causes Differentiating D-Glyceric acidemia from Other Diseases Epidemiology and Demographics Risk Factors Screening Natural History, Complications, and Prognosis Diagnosis Diagnostic Criteria History and Symptoms Physical Examination Laboratory Findings [wikidoc.org]

D-glyceric aciduria is an inherited disease caused by a deficiency of glycerate 2-kinase activity, whose pathophysiological mechanisms remain unknown. [ncbi.nlm.nih.gov]

PAK Major progress has been made in the pathophysiologic elucidation and management of nephrolithiasis during the past two decades. [books.google.com]

Clinical presentations of these conditions, enzymatic and/or molecular defects, pathophysiological consequences, and modes of treatments are discussed. This content is only available as a PDF. [doi.org]

It is now possible to detect the cause of stone disease in more than 95% of patients, to prevent recurrent formation of stones in the majority of patients, and to remove most existing stones less invasively. [books.google.com]

This property accounts for the function of the enzyme, which is to maintain the cytosolic concentration of hydroxypyruvate and glyoxylate at a very low level, thus preventing the formation of oxalate. [ncbi.nlm.nih.gov]

Mutations in either the AMT or GLDC gene prevent the complex from breaking down glycine properly. When glycine cleavage enzyme is defective, excess glycine can build up to toxic levels in the body's organs and tissues. [wikidoc.org]