1. Tyrosinemia Type III detected via neonatal screening: Management and outcome
- Author
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Heylen, Evelyne, Scherer, Gerd, Vincent, Marie-Françoise, Marie, Sandrine, Fischer, Judith, and Nassogne, Marie-Cécile
- Subjects
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TYROSINEMIA , *NEWBORN screening , *MEDICAL screening , *HEALTH outcome assessment , *DIOXYGENASES , *TYROSINE , *PHENOTYPES , *INTRONS - Abstract
Abstract: 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 homozygous for the splice donor mutation IVS11+1G>A in intron 11 of the HPD gene. At the age of 30months, the boy''s outcome under mild protein restriction was characterized by normal growth and psychomotor development. [Copyright &y& Elsevier]
- Published
- 2012
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