Increased excretion of coproporphyrin I in a patient with hereditary tyrosinaemia type I: Relevant changes with NTBC treatment

We describe a cutaneous form of porphyria in a neonate presenting with severe liver failure due to tyrosinaemia type 1. This porphyria is tentatively attributed to a secondary accumulation of coproporphyrins due to cholestasis, as reported in the bronze baby syndrome and recently described in neonates with purpuric phototherapy-induced eruption, rather than to a primary defect of porphyrin metabolism. The hypothesis of a direct effect of tyrosinaemia type 1 on porphyrin excretion is also discussed.

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Cutaneous porphyria in a neonate with tyrosinaemia type 1

Eijnden

Blum

Clercx

et al. 2000

European Journal of Pediatrics

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Increased excretion of coproporphyrin I in a patient with hereditary tyrosinaemia type I: Relevant changes with NTBC treatment

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References 4 publications

Cutaneous porphyria in a neonate with tyrosinaemia type 1

Cutaneous porphyria in a neonate with tyrosinaemia type 1

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