![]() ĬblC disease is an autosomal recessive disorder caused by mutations in the MMACHC gene (OMIM *609831) on chromosome 1p34.2. Some series have shown a predominance of male patients. Newborn screening (NBS) studies revealed an incidence of 1:100,000 in New York State, 1:121,000 in the state of New Jersey, 1:67,000 in California and 1:46,000 in Hispanic populations, 1:85,000 in Portugal, 1:3,920 in Shandong, China, confirming that cblC deficiency is panethnic and the most common inborn error of intracellular cobalamin metabolism, comprising around 80% of such cases. CblC is responsible for a wide range of systemic manifestations and severe ophthalmological features, usually presenting as an infantile-onset macular and retinal degeneration, leading to extreme visual acuity loss early in life. 9 Follow-up and surveillance strategiesĬobalamin C (cblC) deficiency (OMIM #277400, Methylmalonic aciduria and homocystinuria, cblC type) is the most common inborn error of intracellular vitamin B12 metabolism, belonging to the cobalamin(cbl)-related methylation disorders group, along with cblD, cblE, cblF, cblG, cblJ, cblX and MTHFR deficiency.5.3.2 Optical coherence tomography (OCT).2.2 Common mutations and genotype-phenotype correlations.Burmese: ဒေါ်ကြီး (my) ( dau-kri: ) ( elder sister of one's father or mother ), ကြီးတော် (my) ( kri:tau ) ( mother's elder sister ), ဒေါ်လေး (my) ( daule: ) ( younger sister of one's father or mother ), အဒေါ် (my) ( a.dau ) ( younger sister of one's mother ), ထွေးလေး (my) ( htwe:le: ) ( mother's younger sister ), ထွေးတော် (my) ( htwe:tau ), အရီး (my) ( a.Albanian: teze (sq), emtë (sq), hallë (sq).The sister or sister-in-law of one’s parent.( Southern American English ) enPR: ānt, IPA ( key): /eɪnt/.( AAVE ) enPR: ŭnt, IPA ( key): /ʌnt/ Rhymes: -ʌnt.( New England ) enPR: ônt, IPA ( key): /ɔnt/ Rhymes: -ɔːnt.( Northern England, Ireland ) IPA ( key):,.( General American, Canada ) IPA ( key):, ,.Rhymes: -ɑːnt Homophone: aren't ( in some non-rhotic accents ) Audio (US) ( Atlantic Canada, Tidewater, General South African ) IPA ( key):.( General Australian, New Zealand ) IPA ( key):,.( Received Pronunciation ) IPA ( key):.Displaced native Middle English modrie ( “ aunt ” ) (from Old English mōdriġe ( “ maternal aunt ” ) compare Old English faþu, faþe ( “ paternal aunt ” )). From Middle English aunte, from Anglo-Norman aunte, from Old French ante, from Latin amita ( “ father's sister ” ).
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