Hyperlysinemias

Known as: Familial Hyperlysinemia, Lysine:Alpha Ketoglutarate Reductase Deficiency, L-Lysine:NAD-Oxido-Reductase Deficiencies 
A group of inherited metabolic disorders which have in common elevations of serum LYSINE levels. Enzyme deficiencies of alpha-aminoadipic… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1964-2018
02419642018

Papers overview

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2013
2013
BACKGROUND Hyperlysinemia is an autosomal recessive inborn error of L-lysine degradation. To date only one causal mutation in the… (More)
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2000
2000
The first two steps in the mammalian lysine-degradation pathway are catalyzed by lysine-ketoglutarate reductase and saccharopine… (More)
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1997
1997
We present clinical, biochemical and cranial magnetic resonance imaging data of six pediatric patients with L-2-hydroxyglutaric… (More)
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1984
1984
Familial hyperlysinemias are autosomal recessive disorders in the oxidative degradation of lysine. Hyperlysinemia type I is… (More)
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1982
1982
The effects of lysine vasopressin on memory and cognitive deficits in Alzheimer disease was investigated. In a double-blind study… (More)
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1979
1979
Enzyme assays of skin fibroblasts from five children with familial hyperlysinemia from unrelated families are added to the… (More)
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1976
1976
Extract: Lysine-ketoglutarate reductase (EC. 1.5.1.8) deficiency in skin fibroblasts has been previously reported in patients… (More)
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1970
1970
Extract: Pipecolic acid has been found in urine from normal infants and from children with hyperlysinemia. The reaction of… (More)
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1969
1969
Fibroblasts grown in tissue culture from the skin of normal subjects have lysine-ketoglutarate reductase activity (lysine: alpha… (More)
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