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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 ...
3034 15109 Ensembl ENSG00000084110 ENSMUSG00000020017 UniProt P42357 P35492 RefSeq (mRNA) NM_001258333 NM_001258334 NM_002108 NM_010401 RefSeq (protein) NP_001245262 NP_001245263 NP_002099 NP_034531 Location (UCSC) Chr 12: 95.97 – 96 Mb Chr 10: 93.32 – 93.36 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse histidine ammonia-lyase Histidine ammonia-lyase homotetramer, Pseudomonas ...
Histidine (symbol His or H) [2] is an essential amino acid that is used in the biosynthesis of proteins.It contains an α-amino group (which is in the protonated –NH 3 + form under biological conditions), a carboxylic acid group (which is in the deprotonated –COO − form under biological conditions), and an imidazole side chain (which is partially protonated), classifying it as a ...
Isobutyryl-coenzyme A dehydrogenase deficiency is a rare metabolic disorder in which the body is unable to process certain amino acids properly. [1]People with this disorder have inadequate levels of an enzyme that helps break down the amino acid valine, resulting in a buildup of valine in the urine, a symptom called valinuria.
Carnosinemia has an autosomal recessive pattern of inheritance.. The gene for carnosinase is located on chromosome 18, [3] an autosome.The carnosine dipeptidase-1 gene controls tissue and serum carnosinase. [10]
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.
Hyperhomocysteinemia is a medical condition characterized by an abnormally high level of total homocysteine (that is, including homocystine and homocysteine-cysteine disulfide) in the blood, conventionally described as above 15 μmol/L. [1]
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