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Histidinemia: biochemical parameters for diagnosis
American Journal of Diseases of Children (1960)
|March 1, 1981
Summary
A new method accurately measures histidase activity and histidine levels in skin. This aids in diagnosing histidinemia in infants and differentiating genetic forms of the disorder.
Area of Science:
- Biochemistry
- Genetics
- Dermatology
Background:
- Histidinemia is a genetic disorder affecting histidine metabolism.
- Accurate diagnosis and differentiation of its forms are crucial for patient management.
Purpose of the Study:
- To develop a sensitive method for assessing histidase activity in stratum corneum epidermidis.
- To establish techniques for measuring histidine metabolites and their ratios.
Main Methods:
- A specific assay using labeled histidine to quantify histidase activity in small skin samples (1-2 mg).
- Thin-layer chromatography for analyzing histidine and its metabolites in biological samples.
- Determination of urocanic acid to histidine (U/H) ratios in stratum corneum epidermidis.
Main Results:
- A highly specific and sensitive procedure for histidase activity determination was established.
- Methods for U/H ratio measurement and metabolite analysis were successfully developed.
- The combined approach provides a comprehensive evaluation of histidine metabolism.
Conclusions:
- This diagnostic triad aids in evaluating infants and children with suspected histidinemia.
- The methods facilitate differentiation between classic histidinemia and its genetic variants.
- The study offers improved tools for diagnosing and characterizing histidinemia.