Helman G, Pacheco-Colon I, Gropman AL.Clinical outcomes and the mutation spectrum of the OTC gene in patients with The Otx/otd homolog ttx-1 specifies the identities of the AFD thermosensory neurons. elegans responds to thermal and chemical stimuli using 12 types of sensory neurons. Choi JH, Lee BH, Kim JH, Kim GH, Kim YM, Cho J, Cheon CK, Ko JM, Lee JH, Yoo PMID: 14536063 DOI: 10.1016/s1534-5807 (03)00293-4 Abstract The mechanisms by which the diverse functional identities of neurons are generated are poorly understood.Citation on PubMed or Free article on PubMed Central Genotype-PhenotypeĬorrelations in Ornithine Transcarbamylase Deficiency: A Mutation Update. Caldovic L, Abdikarim I, Narain S, Tuchman M, Morizono H.
#Otx gene series#
Long-term outcomes in Ornithine Transcarbamylaseĭeficiency: a series of 90 patients. Servais A, Barbier V, Dubois S, Touati G, Barouki R, Lesage F, Dupic L, Bonnefont Brassier A, Gobin S, Arnoux JB, Valayannopoulos V, Habarou F, Kossorotoff M,.GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. Ah Mew N, Simpson KL, Gropman AL, Lanpher BC, Chapman KA, Summar ML.Accumulation of ammonia causes neurological problems and other signs and symptoms of ornithine transcarbamylase deficiency. Excess nitrogen is not converted to urea for excretion, and ammonia accumulates in the body. If the ornithine transcarbamylase enzyme is misshapen or missing, it cannot fulfill its role in the urea cycle. The shape of an enzyme affects its ability to control a chemical reaction. The OTC gene mutations that cause ornithine transcarbamylase deficiency result in an ornithine transcarbamylase enzyme that is shorter than normal or the wrong shape, or prevent any enzyme from being produced. The nervous system is especially sensitive to the effects of excess ammonia. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. More than 500 OTC gene mutations have been identified in people with ornithine transcarbamylase deficiency, an inherited disorder that causes ammonia to accumulate in the blood.
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