Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Familial transient neonatal hyperbilirubinemia

Familial transient neonatal hyperbilirubinemia is a temporary elevation of unconjugated bilirubin levels soon after birth. The cause are like some inhibitors of bilirubin metabolism. Also a polymorphism in the UGT1A1 gene has been found to correlate with this disorder.

Systematic

Genetic hyperbilirubinemia
Crigler-Najjar syndrome 1
Crigler-Najjar syndrome 2
Dubin-Johnson syndrome
Familial transient neonatal hyperbilirubinemia
UGT1A
Gilbert syndrome
Rotor type hyperbilirubinemia

References:

1.

Maruo Y et al. (2000) Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate- glucuronosyltransferase gene.

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2.

Sato H et al. (2013) Association of breast-fed neonatal hyperbilirubinemia with UGT1A1 polymorphisms: 211G>A (G71R) mutation becomes a risk factor under inadequate feeding.

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3.

MABRY CC et al. (1963) MATERNAL PHENYLKETONURIA. A CAUSE OF MENTAL RETARDATION IN CHILDREN WITHOUT THE METABOLIC DEFECT.

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4.

NEWMAN AJ et al. (1963) HYPERBILIRUBINEMIA IN BREAST-FED INFANTS.

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5.

ARIAS IM et al. (1964) PROLONGED NEONATAL UNCONJUGATED HYPERBILIRUBINEMIA ASSOCIATED WITH BREAST FEEDING AND A STEROID, PREGNANE-3(ALPHA), 20(BETA)-DIOL, IN MATERNAL MILK THAT INHIBITS GLUCURONIDE FORMATION IN VITRO.

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6.

ARIAS IM et al. (1964) PRODUCTION OF UNCONJUGATED HYPERBILIRUBINAEMIA IN FULL-TERM NEW-BORN INFANTS FOLLOWING ADMINISTRATION OF PREGNANE-3(ALPHA),20(BETA)-DIOL.

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7.

ARIAS IM et al. (1965) TRANSIENT FAMILIAL NEONATAL HYPERBILIRUBINEMIA.

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8.

Grunebaum E et al. (1991) Breast mild jaundice: natural history, familial incidence and late neurodevelopmental outcome of the infant.

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9.

Khoury MJ et al. (1988) Recurrence risk of neonatal hyperbilirubinemia in siblings.

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Update: Sept. 26, 2018