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Article

Tyrosinemia Type III detected via neonatal screening: management and outcome.

Molecular genetics and metabolism - 1 Nov 2012

Heylen Evelyne, Scherer Gerd, Vincent Marie-Françoise, Marie Sandrine, Fischer Judith, Nassogne Marie-Cécile

Abstract excerpt

Tyrosinemia Type III is caused by the deficiency of 4-hydroxyphenylpyruvate dioxygenase (4-HPPD), an enzyme involved in the catabolic pathway of tyrosine. To our knowledge, only a few patients presenting with this disease have been described in the literature, and the clinical phenotype remains variable and unclear. We report the case of a boy with tyrosinemia Type III detected using neonatal screening, who is...

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Identifiers

PMID: 23036342
DOI: 10.1016/j.ymgme.2012.09.002

Genes

HPD

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