Université Catholique de Louvain, Cliniques Universitaires Saint-Luc, Avenue Hippocrate 10, B-1200 Bruxelles, Belgium.
Mol Genet Metab. 2012 Nov;107(3):605-7. doi: 10.1016/j.ymgme.2012.09.002. Epub 2012 Sep 7.
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 30 months, the boy's outcome under mild protein restriction was characterized by normal growth and psychomotor development.
III 型酪氨酸血症由 4-羥苯丙酮酸双加氧酶（4-HPPD）缺乏引起，该酶参与酪氨酸的分解代谢途径。据我们所知，仅有少数患有这种疾病的患者在文献中被描述，其临床表型仍然存在差异且不明确。我们报告了一例通过新生儿筛查发现的 III 型酪氨酸血症患儿，该患儿 HPD 基因第 11 内含子的剪接供体位点 IVS11+1G>A 纯合突变。在 30 月龄时，该患儿在轻度限制蛋白质摄入的情况下，其生长和精神运动发育均正常。
