Description Nager syndrome is a rare condition that mainly affects the development of the face, hands, and arms. The severity of this disorder varies among affected individuals. Children with Nager syndrome are born with underdeveloped cheek bones malar hypoplasia and a very small lower jaw micrognathia. They often have an opening in the roof of the mouth called a cleft palate. These abnormalities frequently cause feeding problems in infants with Nager syndrome.
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Cause[ edit ] It is caused by abnormalities in the gene coding for uridine diphosphoglucuronate glucuronosyltransferase UGT1A1. UGT1A1 normally catalyzes the conjugation of bilirubin and glucuronic acid within hepatocytes. Conjugated bilirubin is more water soluble and is excreted in bile.
Type I[ edit ] This is a very rare disease estimated at 0. Inheritance is autosomal recessive. Intense jaundice appears in the first days of life and persists thereafter. No UDP glucuronosyltransferase 1-A1 expression can be detected in the liver tissue.
Hence, there is no response to treatment with phenobarbital ,  which causes CYP enzyme induction. Most patients type IA have a mutation in one of the common exons 2 to 5 , and have difficulties conjugating several additional substrates several drugs and xenobiotics.
A smaller percentage of patients type IB have mutations limited to the bilirubin-specific A1 exon; their conjugation defect is mostly restricted to bilirubin itself. Before the availability of phototherapy , these children died of kernicterus bilirubin encephalopathy or survived until early adulthood with clear neurological impairment.
Because of lower serum bilirubin, kernicterus is rare in type II. Bile is pigmented, instead of pale in type I or dark as normal, and monoconjugates constitute the largest fraction of bile conjugates.
In fact, this can be used, along with these other factors, to differentiate type I and II.
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