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Histidinemia is a rare autosomal recessive metabolic disorder caused by a deficiency of the enzyme histidase. Histidase is needed for the metabolism of the amino acid histidine . [ 1 ] Although originally thought to be linked to multiple developmental disorders histidinemia is now accepted as a relatively benign disorder, [ 2 ] leading to a ...
Carnosinemia is a rare autosomal recessive [3] metabolic disorder [4] caused by a deficiency of carnosinase, a dipeptidase (a type of enzyme that splits dipeptides into their two amino acid constituents). [5] Carnosine is a dipeptide composed of beta-alanine and histidine, and is found in skeletal muscle and cells of the nervous system. [6]
The amino acid histidine, when catalyzed by the enzyme histidase, forms urocanic acid. Disruptions in this pathway, caused by a deficiency of histidase, is the underlying cause of histidinemia. This results in reduced levels of skin and serum urocanic acid, the primary indicator of insufficient histidase activity. [citation needed]
Ornithine transcarbamylase deficiency also known as OTC deficiency is the most common urea cycle disorder in humans. Ornithine transcarbamylase , the defective enzyme in this disorder, is the final enzyme in the proximal portion of the urea cycle , responsible for converting carbamoyl phosphate and ornithine into citrulline .
The histidine amino acid is a precursor for histamine, an amine produced in the body necessary for inflammation. [25] The enzyme histidine ammonia-lyase converts histidine into ammonia and urocanic acid. A deficiency in this enzyme is present in the rare metabolic disorder histidinemia, producing urocanic aciduria as a key diagnostic finding.
Most people will get HPV, but the vast majority of people show no signs or symptoms. Our immune systems tend to get rid of infections before symptoms appear. But HPV can present as warts.
There are physical symptoms of that fear — fast heartbeat, sweating, trembling, dizziness, nausea, shortness of breath, chest pain or vomiting. They have emotional symptoms, so they feel panicky ...
Carnitine palmitoyltransferase II deficiency, sometimes shortened to CPT-II or CPT2, is an autosomal recessively inherited genetic metabolic disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria for utilization as an energy source. The disorder presents in one of three ...