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Clinical and biochemical consequences of copper-histidine therapy in Menkes disease
Abstract:
Menkes disease (MD) is an X-linked recessively inherited neurodegenerative disorder of copper (Cu) metabolism leading to death in early childhood. Symptoms are attributed to deficient activity of Cu-dependent enzymes. Limited experience has been reported concerning clinical and biochemical consequences of parenteral treatment with copper-(histidine)2-complex (Cu-His) in MD. Cu-His was administered in a 13-week-old boy with MD by daily intramuscular injections. After 6 weeks of therapy, Cu and caeruloplasmin in serum and Cu in CSF were normalized. The excessive dopamine level in CSF was corrected after 3 months of treatment. After 6 weeks of Cu supplementation, complete reduction of epileptic discharges, improved muscular tone and increased motor activities were observed. Developmental regression stopped and was replaced by a slight progression. Death at the age of 19 months was caused by septicaemia due to a fulminant urinary tract infection; there was no evidence of chronic Cu toxicity. These findings suggest that Cu-His supplementation may be a promising palliative treatment in MD.
Insights
Copper-histidine (Cu-His) treatment in Menkes disease (MD) normalized copper levels and improved neurological symptoms. This parenteral therapy offers promising palliative care for infants with this neurodegenerative disorder.
Area of Science:
- Biochemistry
- Neuroscience
- Genetics
Background:
- Menkes disease (MD) is a severe X-linked neurodegenerative disorder impacting copper metabolism.
- Symptoms arise from impaired activity of copper-dependent enzymes, often leading to early childhood death.
Observation:
- A 13-week-old boy with MD received daily intramuscular copper-(histidine)2-complex (Cu-His) injections.
- Treatment initiated biochemical and neurological improvements within weeks.
Findings:
- Serum copper and caeruloplasmin normalized after 6 weeks.
- Cerebrospinal fluid (CSF) copper normalized, and excessive dopamine levels corrected after 3 months.
- Epileptic discharges reduced, muscle tone improved, motor activity increased, and developmental regression halted, replaced by slight progression.
Implications:
- Parenteral Cu-His supplementation shows potential as a palliative treatment for Menkes disease.
- Early intervention may mitigate severe neurological deficits and improve developmental trajectory.
- Further research is warranted to establish optimal dosing and long-term efficacy.