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Hyperammonemia, or high ammonia levels, is a metabolic disturbance characterised by an excess of ammonia in the blood. Severe hyperammonemia is a dangerous condition that may lead to brain injury and death. It may be primary or secondary. Ammonia is a substance that contains nitrogen. It is a product of the catabolism of protein.
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.
Severe Transient Hyperammonemia is diagnosed when ammonia levels are above 50 μM up to as much as 4000 μM. Severe Transient Hyperammonemia causes neurological problems as ammonia levels in the brain are too high, which can cause infant hyptotonia as well as neonatal seizures. [5]
18416 Ensembl ENSG00000036473 ENSMUSG00000031173 UniProt P00480 P11725 RefSeq (mRNA) NM_000531 NM_008769 RefSeq (protein) NP_000522 NP_032795 Location (UCSC) Chr X: 38.35 – 38.42 Mb Chr X: 10.12 – 10.19 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Ornithine transcarbamylase (OTC) (also called ornithine carbamoyltransferase) is an enzyme (EC 2.1.3.3) that catalyzes the reaction ...
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Ornithine translocase deficiency, also called hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome, [1] is a rare autosomal recessive [2] urea cycle disorder affecting the enzyme ornithine translocase, which causes ammonia to accumulate in the blood, a condition called hyperammonemia.
Few foods are more appetizing to people than a juicy steak. Grilled to order and garnished with herbs like basil and chives, sauces such as au jus, peppercorn and A1, or vegetables like grilled ...
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