SEARCHNARRATIVE_REVIEWpediatrics, neurology

narrative_review·pediatrics, neurology, gastroenterology, nutrition, preclinical research·PMC10818781

Disorders of Copper Metabolism in Children—A Problem too Rarely Recognized

Metabolites · 2 authors, 2 centres

AI SUMMARY

FIDELITY 100%

This summary was generated by AI from a single paper. It has not been reviewed by a clinician and is not clinical advice. Verify against the source before acting on it.

AGENT 01 · STRUCTURED SUMMARY

TRACE TO SOURCE

“

TL;DR

This narrative review analyzes the latest literature on Menkes disease (MD) and Wilson's disease (WD), two inherited disorders of copper metabolism in children.

Full summary

551 CHARS

This narrative review analyzes the latest literature on Menkes disease (MD) and Wilson's disease (WD), two inherited disorders of copper metabolism in children. The paper details the genetic basis, with MD caused by ATP7A mutations leading to copper deficiency and WD by ATP7B mutations leading to copper excess. Treatment involves chelating agents and zinc to manage copper levels, with liver transplantation for acute failure. MD is described as progressive with neurodegenerative and connective tissue symptoms, and treatment is largely supportive.

STUDY TYPE

narrative_review

SPECIALTY

pediatrics

SUMMARISED BY

AI pipeline

FIDELITY CHECK

100% · A

ORIGINAL PAPER

PMC10818781

Disorders of Copper Metabolism in Children—A Problem too Rarely Recognized

Metabolites

READ THE FULL PAPER

ABSTRACT

Copper plays an important role in metabolic processes. Both deficiency and excess of this element have a negative effect and lead to pathological conditions. Copper is a cofactor of many enzymatic reactions. Its concentration depends on the delivery in the diet, the absorption in enterocytes, transport with the participation of ATP7A/ATP7B protein, and proper excretion. Copper homeostasis disorders lead to serious medical conditions such as Menkes disease (MD) and Wilson’s disease (WD). A mutation in the ATP7A gene is the cause of Menkes disease, it prevents the supply of copper ions to enzymes dependent on them, such as dopamine β-hydroxylase and lysyl oxidase. This leads to progressive changes in the central nervous system and disorders of the connective tissue. In turn, Wilson’s disease is an inherited autosomal recessive disease. It is caused by a mutation of the ATP7B gene encoding the ATP7B protein which means excess copper cannot be removed from the body, leading to the pathological accumulation of this element in the liver and brain. The clinical picture is dominated by the liver, neurological, and/or psychiatric symptoms. Early inclusion of zinc preparations and chelating drugs significantly improves the prognosis in this group of patients. The aim of the study is to analyse, based on the latest literature, the following factors: the etiopathogenesis, clinical picture, diagnostic tests, treatment, prognosis, and complications of disease entities associated with copper disturbances: Menkes disease and Wilson’s disease. In addition, it is necessary for general practitioners, neurologists, and gastroenterologists to pay attention to these disease entities because they are recognized too late and too rarely, especially in the paediatric population.

CITATION EXPORT

Sabina Więcek, Justyna Paprocka. Disorders of Copper Metabolism in Children—A Problem too Rarely Recognized. Metabolites. (2024). https://doi.org/10.3390/metabo14010038

AUTHORS

2 · 2 CENTRES

Sabina Więcek, Justyna Paprocka

1Department of Paediatrics, Faculty of Medical Sciences, Medical University of Silesia, 40-055 Katowice, Poland
2Department of Paediatric Neurology, Faculty of Medical Sciences, Medical University of Silesia, 40-055 Katowice, Poland

EDITOR / REVIEWER

James Cox