Top 10 similar words or synonyms for hyperlysinemia

hypermethioninemia    0.925334

hyperornithinemia    0.921673

hyperexplexia    0.914811

hyperargininemia    0.846722

hypokeratosis    0.836561

hyperglycinemia    0.831836

hyperprolinemia    0.806033

hyperinsulinism    0.789017

hyperphalangism    0.782216

cysticum    0.782109

Top 30 analogous words or synonyms for hyperlysinemia

Article Example
Hyperlysinemia Hyperlysinemia is associated with ectopia lentis (a displacement or malposition of the eye's crystalline lens) in humans.
Hyperlysinemia Hyperlysinemia is an autosomal recessive metabolic disorder characterized by an abnormal increase of lysine in the blood, but appears to be benign. It is caused by mutations in "AASS", which encodes α-aminoadipic semialdehyde synthase.
Hyperlysinemia Hyperlysinemia is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.
Alpha-aminoadipic semialdehyde synthase, mitochondrial Two types of familial hyperlysinemia have been described so far: type I is associated with a combined deficiency of the two enzyme activities, LOR and SDH, whereas in familial hyperlysinemia type II only the saccharopine dehydrogenase activity is impaired. Type II hyperlysinemia is also referred to as saccharopinuria.
Hypusine An excess of hypusine was found in the urine of children and patients with familial hyperlysinemia.
Alpha-aminoadipic semialdehyde synthase, mitochondrial An additional condition shown to be related to hyperlysinemia is dienoyl-CoA reductase deficiency, though this is a relatively recent discovery and there are not many publications supporting this.
Alpha-aminoadipic semialdehyde synthase, mitochondrial Alpha-aminoadipic semialdehyde synthase is encoded for by the AASS gene, and mutations in this gene lead to hyperlysinemia. This is characterized by impaired breakdown of lysine which results in elevated levels of lysine in the blood and urine. These increased levels of lysine do not appear to have any negative effects on the body. Other names for this condition include:
Saccharopinuria Saccharopinuria (an excess of saccharopine in the urine), also called saccharopinemia, saccharopine dehydrogenase deficiency or alpha-aminoadipic semialdehyde synthase deficiency, is a variant form of hyperlysinemia. It is caused by a partial deficiency of the enzyme saccharopine dehydrogenase, which plays a secondary role in the lysine metabolic pathway. Inheritance is thought to be autosomal recessive, but this cannot be established as individuals affected by saccharopinuria typically have only a 40% reduction in functional enzyme.
Alpha-aminoadipic semialdehyde synthase, mitochondrial Alpha-aminoadipic semialdehyde synthase is an enzyme encoded by the AASS gene in humans and is involved in their major lysine degradation pathway. It is similar to the separate enzymes coded for by the LYS1 and LYS9 genes in yeast, and related to, although not similar in structure, the bifunctional enzyme found in plants. In humans, mutations in the AASS gene, and the corresponding alpha-aminoadipic semialdehyde synthase enzyme are associated with familial hyperlysinemia. This condition is inherited in an autosomal recessive pattern and is not considered a particularly negative condition, thus making it a rare disease.
2,4 Dienoyl-CoA reductase deficiency 2,4 Dienoyl-CoA reductase deficiency is an inborn error of metabolism resulting in defective fatty acid oxidation caused by a deficiency of the enzyme 2,4 Dienoyl-CoA reductase. Lysine degradation is also affected in this disorder leading to hyperlysinemia. The disorder is inherited in an autosomal recessive manner, meaning an individual must inherit mutations in "NADK2," located at 5p13.2 from both of their parents. NADK2 encodes the mitochondrial NAD kinase. A defect in this enzyme leads to deficient mitochondrial nicotinamide adenine dinucleotide phosphate levels. 2,4 Dienoyl-CoA reductase, but also lysine degradation are performed by NADP-dependent oxidoreductases explaining how NADK2 deficiency can lead to multiple enzyme defects.