Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018099 (gout)
 5,192 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The AA, have studied the literature concerning the interrelationship between purine, carbohydrate, lipid and aminoacid metabolism, in hyperuricaemia and gout. The behaviour of uricaemia and purine metabolism in the glycogen storage disease type I, in the glutathione reductase variant, after ethanol ingestion, after fructose load, the levels of lipoproteins and triglycerides in gouty patients and the reason for their increase, have been taken into special consideration. The AA. underline the evidence that gout and hyperuricaemia are metabolic defects which are not limited to purine biosynthesis, but involve also other sections of metabolism. Only some of these alterations are known; this interrelationship must be further investigated from a biochemical and genetic point of view.
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PMID:[Interrelationship between purine, carbohydrate, lipid and aminoacid metabolism, in hyperuricaemia and gout (author's transl)]. 28 5

Two patients had onset of juvenile gouty arthritis at ages 16 and 1 1/2 years, respectively. Both had mild renal insufficiency, with creatinine clearances of 46 and 54 mL/min/1.73 sq m, respectively. Their presenting hyperuricemia (13.8 and 11 mg/dL, respectively) was out of proportion to the degree of renal insufficiency. Clinical and laboratory studies did not suggest an inborn error of purine metabolism, glycogen storage disease type I, or any myeloproliferative disorder. Neither patient had a family history of gout or inherited renal disease. Although juvenile gouty arthritis is rare, it must be considered in the differential diagnosis of episodic arthritis in children, especially if renal impairment, even mild, is present.
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PMID:Juvenile gouty arthritis. Two cases associated with mild renal insufficiency. 647 56

Deficiency of the enzyme glucose-6-phosphatase is the biochemical defect in glycogen storage disease type I (GSD I). Normally this enzyme is present in the liver, intestine and kidneys. The lack of the enzyme in the kidney makes it obvious that glycogen storage will not be restricted to the liver but that also the kidneys will be involved, possibly resulting in renal damage. Glycogen storage in the kidney is most outspoken present in the proximal tubular cells. In case of insufficient metabolic control, a Fanconi-like syndrome can develop, disappearing with improved therapy. Although renal disease has not been considered a problem in GSD I, recent findings indicate that especially in adult patients chronic renal disease is a common complication. In the past gout nephropathy and renal stones were the complications mentioned. Recently it appears that in a considerable number of patients after a period of 'silent' hyperfiltration, renal damage develops with proteinuria, hypertension and renal dysfunction later on. In biopsies of such patients focal glomerulosclerosis is found.
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PMID:Renal complications in glycogen storage disease type I. 831 28

An assay for human plasma xanthine oxidase activity was developed with pterin as the substrate and the separation of product (isoxanthopterin) by high-performance liquid chromatography with a fluorescence detector. The reaction mixture consists of 60 microliters of plasma and 240 microliters of 0.2 M Tris-HCl buffer (pH 9.0) containing 113 microM pterin. With this assay, the activity of plasma xanthine oxidase could be easily determined despite its low activity. As a result, it could be demonstrated that the intravenous administration of heparin or the oral administration of ethanol did not increase plasma xanthine oxidase activity in normal subjects, and also that plasma xanthine oxidase activity was higher in patients with hepatitis C virus infection than in healthy subjects or patients with gout. In addition, a single patient with von Gierke's disease showed a marked increase in the plasma activity of this enzyme, relative to that apparent in normal subjects.
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PMID:Determination of human plasma xanthine oxidase activity by high-performance liquid chromatography. 881 53

Type 1a glycogen storage disease (GSD 1a), or von Gierke disease, is a rare, autosomal-recessive disease caused by a deficiency of glucose-6-phosphatase, which leads to glycogen accumulation in the liver, kidney, and intestinal mucosa. Clinical manifestations include hypoglycemia, growth retardation, hepatomegaly, lactic acidemia, hyperlipidemia, and hyperuricemia. Long-term complications include renal disease, gout, osteoporosis, pulmonary hypertension, short stature, and hepatocellular adenomas, which may undergo malignant transformation. Herein we have described the management and the clinical course of a GSD1a patient who underwent simultaneous preemptive liver- kidney transplantation (SPLKT), which solved the liver and renal disease. We confirmed the rapid normalization of glucose metabolism, and correction of hyperlipemia after liver transplantation. In our opinion uremic patients with GSD 1a with or without adenomas must be considered for SPLKT. To our knowledge this is the fifth case of SPLKT and the first preemptive one to be described in the literature.
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PMID:Preemptive liver-kidney transplantation in von Gierke disease: a case report. 2162 87