Changes in body weight and height in survivors of Menkes disease

Abstract

ObjectiveTo explore the changes in the body weight and height of Menkes disease (MNK) patients treated with long-term copper–histidine. MethodsA survey involving a retrospective review of medical records or summaries of MNK patients was conducted. Patients were 44 males born after 1994, and their feeding method and genetic analysis of the ATP7A gene were reviewed. We compared the data of body weight and height from birth until 6 years between classical MNK patients and the general population obtained from national data and between patients who received early treatment and patients who received late treatment. ResultsAlthough five patients who received early treatment reached some developmental milestones, the body weight and height did not differ from patients who received late treatment in the mode of oral nutrition, and were lower in comparison to the national data (<3 percentile). ConclusionWe reported changes in the body weight and height of MNK patients who received early and late treatment. Although early treatment with copper–histidine had favorable effects on neurological development, it did not result in improvements in body weight and height. We suggest that the establishment of sufficient nutritional support is necessary along with early parenteral copper treatment to improve whole body condition in MNK patients.