Garibaldi L R, Siliato F, de Martini I, Scarsi M R, Romano C
Helv Paediatr Acta. 1977 Jul;32(2):173-80.
Clinical and biochemical evidence of oculocutaneous tyrosinosis, a rare disease due to hepatic soluble tyrosine aminotransferase (STAT) deficiency, was found in a 3 1/2-year-old girl and in her maternal aunt. Different expressivity of this disease, resulting in clinical heterogeneity, is shown to occur commonly according to the cases reported in this as well as in previous studies. The metabolic pathways leading to the unexpected excretion of phenolic acids in urine are reviewed, and the need for early diagnosis and dietary treatment, in order to prevent corneal clouding and brain damage is finally stressed.
在一名3岁半女童及其姨母身上发现了眼皮肤酪氨酸血症的临床和生化证据，这是一种因肝脏可溶性酪氨酸转氨酶（STAT）缺乏引起的罕见疾病。根据本研究及以往研究报告的病例显示，这种疾病通常会出现不同的表现度，导致临床异质性。本文回顾了导致尿液中酚酸意外排泄的代谢途径，并最终强调了早期诊断和饮食治疗的必要性，以预防角膜混浊和脑损伤。
