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Copper-histidine therapy for Menkes disease
B Sarkar1, K Lingertat-Walsh, J T Clarke
1Department of Biochemistry, Hospital for Sick Children, Toronto, Ontario, Canada.
The Journal of Pediatrics
|November 1, 1993
Summary
Early copper-histidine treatment for Menkes disease shows promise. Subcutaneous copper-histidine may improve neurological outcomes if initiated within the first month of life.
Area of Science:
- Genetics
- Neuroscience
- Biochemistry
Background:
- Menkes disease is a severe X-linked genetic disorder impacting copper transport.
- It leads to progressive neurodegeneration and typically results in death by age 3.
- Current treatment options are limited.
Observation:
- This study reports on 17 years of experience treating Menkes disease.
- The treatment involved subcutaneous administration of copper-histidine.
- Seven patients with Menkes disease were included in the study.
Findings:
- Two patients treated within 1 month of birth showed positive neurological outcomes.
- Five patients treated later (2-7 months) had poor outcomes despite copper-histidine therapy.
- Early intervention appears critical for treatment efficacy.
Implications:
- Subcutaneous copper-histidine shows potential as an effective treatment for Menkes disease.
- Initiating therapy within the first month of life is crucial for favorable neurological development.
- This finding may guide future therapeutic strategies for this rare genetic disorder.