Crigler-Najjar syndrome

(redirected from Criggler-Najjar Syndrome Type I)
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Crig·ler-Naj·jar syn·drome

(krig'lĕr nah'jahr), [MIM*218800]
a rare defect in ability to form bilirubin glucuronide due to deficiency of bilirubin-glucuronide glucuronosyltransferase; characterized by familial nonhemolytic jaundice and, in its severe form, by irreversible brain damage in infancy that resembles kernicterus and may be fatal; autosomal recessive inheritance, caused by mutation in the uridine diphosphate glycosyltransferase 1 gene (UGT1) on chromosome 1q. There is an autosomal dominant form called Gilbert syndrome, also caused by mutation in the UGT1 gene.

Crigler-Najjar syndrome

[krig′lər naj′är]
Etymology: John F. Crigler, Jr., American pediatrician, b. 1919; Victor A. Najjar, Lebanese-born American microbiologist, b. 1914
a congenital familial autosomal anomaly, in which glucuronyl transferase, an enzyme, is deficient or absent. The condition is characterized by nonhemolytic jaundice, an accumulation of unconjugated bilirubin in the blood, and severe disorders of the central nervous system. See also hyperbilirubinemia of the newborn.

Crigler-Najjar syndrome 1

A severe autosomal recessive form (OMIM:218800) of hyperbilirubinaemia affecting infants, who usually die with kern icterus in the first year of life.

Crig·ler-Naj·jar syn·drome

(krig'lĕr nah'jahr sin'drōm)
A defect in ability to form bilirubin glucuronide due to deficiency of bilirubin-glucuronide glucuronosyltransferase; characterized by familial nonhemolytic jaundice and, in its severe form, by irreversible brain damage in infancy that resembles kernicterus and may be fatal.

Crigler-Najjar syndrome

Type I is a rare autosomal recessive disorder causing absence of an enzyme (glucuronyl transferase) essential for normal liver function. Affected new-born babies have high levels of BILIRUBIN in the blood with bilirubin staining of the basal ganglia of the brain. Mortality is high. Type II is a rare autosomal dominant, and much milder form of the disorder in which there is only a partial deficiency of the enzyme. Most survive. (John F. Crigler, American paediatrician, b. 1919 and Lebanese-born American molecular biologist and paediatrician Victor Assar Najjar, b. 1914).

Crigler-Najjar syndrome

A moderate to severe form of hereditary jaundice.
Mentioned in: Jaundice

Crigler,

John F., U.S. physician, 1919–.
Crigler-Najjar disease - Synonym(s): Crigler-Najjar syndrome
Crigler-Najjar syndrome - a rare defect in ability to form bilirubin glucuronide due to deficiency of bilirubin-glucuronide glucuronosyltransferase. Synonym(s): Arias syndrome; Crigler-Najjar disease

Arias,

Irwin Monroe, U.S. physician, 1926–.
Arias syndrome - Synonym(s): Crigler-Najjar syndrome

Najjar,

Victor A., U.S. physician and biochemist, 1914–.
Crigler-Najjar disease - Synonym(s): Crigler-Najjar syndrome
Crigler-Najjar syndrome - see under Crigler