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酪氨酸诱导的眼和皮肤病变。一种可治疗的遗传性疾病。

Tyrosine-induced eye and skin lesions. A treatable genetic disease.

作者信息

Goldsmith L A, Reed J

出版信息

JAMA. 1976 Jul 26;236(4):382-4.

PMID:132541
Abstract

Tyrosine-induced eye and skin lesions in man are an autosomal, recessive, inherited syndrome associated with tyrosinemia, tyrosinuria, and increased urinary excretion of tyrosine metabolites. Patients have mild to severe keratitis and erosive and hyperkeratotic lesions on the palms and soles. The degree of involvement was variable in the small number of patients studied. Mental retardation is frequently a part of the syndrome. A low-tyrosine low-phenylalanine diet lowers blood tyrosine level and leads to healing of the skin and eye lesions. Early dietary treatment may prevent mental retardation.

摘要

酪氨酸诱导的人类眼部和皮肤病变是一种常染色体隐性遗传综合征,与酪氨酸血症、酪氨酸尿症以及酪氨酸代谢产物尿排泄增加有关。患者有轻度至重度角膜炎,手掌和脚底有糜烂性和角化过度性病变。在所研究的少数患者中,受累程度各不相同。智力迟钝常常是该综合征的一部分。低酪氨酸低苯丙氨酸饮食可降低血液酪氨酸水平,并使皮肤和眼部病变愈合。早期饮食治疗可能预防智力迟钝。

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