Speech and language disorders in histidinaemia and other amino acid disturbances

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.

show abstract

Reduced Locomotor Activity of Rats Made Histidinemic by Injection of Histidine

Dutra-Filho

Wannmacher

Pires

et al. 1989

The Journal of Nutrition

View full text Add to dashboard Cite

Acute histidinemia was provoked in 30-d-old male Wistar rats by injecting intraperitoneally either histidine alone (0.5 mg/g body wt) or histidine (0.25 mg/g body wt) plus the histidase inhibitor nitromethane (0.73 mg/g body wt). Histidase activity was approximately 90% inhibited in rats receiving nitromethane. Serum histidine in both groups reached levels similar to those of histidinemic patients. Rats were subjected to the open field behavioral task, and the number of rearings and crossings were counted. A consistently lower locomotor activity was observed in the histidinemic rats. It is proposed that reduced locomotor activity and its relationship to psychomotor development should be investigated in histidinemic children.

show abstract

Speech and language disorders in histidinaemia and other amino acid disturbances

Cited by 4 publications

References 5 publications

Genetic Hypomelanoses: Generalized Hypopigmentation

Genetic Hypomelanoses: Generalized Hypopigmentation

Histidinemia: a biochemical variant or a disease?

Reduced Locomotor Activity of Rats Made Histidinemic by Injection of Histidine

Contact Info

Product

Resources

About