Histidinemia: a biochemical variant or a disease?

Abstract:

:Histidemia, first described by Ghadimi in 1961, is caused by a defect in histidase. The defect results in elevated urinary excretion of histidine and its transamination products, and in high blood histidine. Blood histidine levels in histidinemic patients range from 290 to 1420 microM (normal 70-120 microM). The clinical picture of histidinemia varies from complete normality to severe retardation, with many patients being asymptomatic. No correlation has been found between clinical and biochemical data. Most reported cases have been identified in newborn screening programs. Frequency of histidinemia ranges from 1 in 8000 (Japan) to 1 in 37,000 (Sweden). Histidinemia is inherited as an autosomal recessive trait. Maternal histidinemia is believed to be benign. Studies in animal models have shown similar metabolic changes in animals and humans, but clinical changes differ. Histidinemia may be treated with a low-histidine diet, which reduces elevated histidine levels, although in most cases no improvement of clinical symptoms has been observed.

journal_name

J Am Coll Nutr

authors

Virmani K,Widhalm K

doi

10.1080/07315724.1993.10718291

subject

Has Abstract

pub_date

1993-04-01 00:00:00

pages

115-24

issue

2

eissn

0731-5724

issn

1541-1087

journal_volume

12

pub_type

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