Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Disorders of urate metabolism

Disorders of urate metabolism include conditions with height and low plasma levels and disturbances of production and excretion.

Systematic

Hereditary metabolic diseases
Aceruloplasminemia/Hypoceruloplasminemia
Coenzyme Q10 deficiency
Congenital disorder of glycosylation
Disorders of cobalamin metabolism
Disorders of iron metabolism
Disorders of urate metabolism
Gout PRPS-related
PRPS1
Hyperuricemia
Gout susceptibility 1
ABCG2
Hyperuricemic nephropathy
Hyperuricemic nephropathy, familial juvenile 1
UMOD
Hyperuricemic nephropathy, familial juvenile 2
REN
Kelley-Seegmiller syndrome
HPRT1
Lesch-Nyhan syndrome
HPRT1
Hypouricemia
Renal Hypouricemia
SLC22A12
SLC2A9
Phosphoribosylpyrophosphate synthetase superactivity
PRPS1
Disturbances in phosphate metabolism
Disturbances of glucose metabolism
Food intolerance
Genetic hyperbilirubinemia
Glycolipidosis
HADH deficiency
Hereditary lipid disorders
Hypercatabolic hypoproteinemia
Hypomagnesemia
Hypomethylation syndrome
Lysosomal storage disease
MELAS syndrome
Methionine adenosyltransferase deficiency
Methylmalonic aciduria
Urea cycle disorders

References:

1.

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2.

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3.

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4.

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5.

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7.

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50.

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51.

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53.

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54.

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55.

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56.

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57.

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64.

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65.

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66.

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67.

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69.

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71.

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73.

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75.

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77.

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78.

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79.

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80.

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81.

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82.

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83.

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84.

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85.

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86.

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87.

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Update: Sept. 26, 2018