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[Histidine tolerance in low skin histidase activity]
Acta Biologica Et Medica Germanica
|January 1, 1975
Summary
Deaf patients with low skin histidase activity showed normal histidine tolerance after loading, suggesting heterozygosity for histidinaemia. Abnormal imidazole compounds were detected, indicating potential biochemical heterogeneity.
Area of Science:
- Biochemistry
- Genetics
- Otolaryngology
Background:
- Histidinaemia is an inborn error of histidine metabolism.
- Reduced histidase activity in the stratum corneum is linked to histidinaemia.
- Deafness is sometimes associated with metabolic disorders.
Purpose of the Study:
- To investigate histidine metabolism in deaf patients with low skin histidase activity.
- To assess for histidinaemia and its potential link to deafness.
- To explore the biochemical heterogeneity of histidinaemia.
Main Methods:
- Oral histidine loading test (100 mg L-His/kg body weight).
- Measurement of plasma phenylalanine and histidine levels.
- Thin-layer chromatography of imidazole compounds.
Main Results:
- Deaf patients exhibited an elevated phenylalanine/tyrosine quotient.
- Basal histidine levels were slightly elevated but not statistically significant.
- No significant differences in histidine tolerance curves were observed post-loading.
- Abnormal imidazole compounds were detected after histidine loading.
Conclusions:
- The findings suggest heterozygosity for histidinaemia in the studied deaf patients.
- The results highlight the clinical and biochemical heterogeneity of histidinaemia.
- Further research is needed to clarify the relationship between histidine metabolism, deafness, and histidinaemia.