Crigler-Najjar syndrome
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Crigler-Najjar syndrome
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Crigler-Najjar syndrome
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| Laboratory value | Result |
| Hemoglobin | 13.9 mg.dL |
| Leukocyte count | 6,800/mm3 |
| Total bilirubin | 12.7 mg/dL |
| Conjugated bilirubin | 0.3 mg/dL |
| Alanine aminotransferase | 15 U/L |
| Aspartate aminotransferase | 16 U/L |
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Crigler-Najjar syndrome p. 402, 403
presentation p. 718
Jaundice p. 402
Crigler-Najjar syndrome p. 718
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Summary
Crigler-Najjar syndrome is an inherited disorder that affects the ability to break down bilirubin, a pigment produced when red blood cells are broken down. Crigler-Najjar syndrome is caused by the absence (type I) or reduced activity (type II) of the enzyme UDP-glucuronosyltransferase, and people having this disease present with high levels of bilirubin in their blood, which can cause yellowing of the skin and eyes (jaundice), dark urine, lightheadedness, confusion, and coma. The severity of symptoms varies among people with this condition.
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