ArticleMetabolic brain disease2015
Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients.
Article in Metabolic brain disease, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Cuproptosis: Mechanisms, biological significance, and advances in disease treatment-A systematic review.CNS neuroscience & therapeutics · 2024Pooled it
- "A new era in Menkes disease management: the disease-modifying impact of Zycubo (copper histidinate)".Annals of medicine and surgery (2012) · 2026Article
- Dynamic PET Imaging of Elesclomol-Facilitated Copper Delivery in Ischemic Stroke Rats.ACS omega · 2026Article
- Mammalian copper homeostasis: physiological roles and molecular mechanisms.Physiological reviews · 2025Review
- Copper Metabolism and Cuproptosis: Molecular Mechanisms and Therapeutic Perspectives in Neurodegenerative Diseases.Current medical science · 2024Review
- Menkes disease complicated by concurrent ACY1 deficiency: A case report.Frontiers in genetics · 2023Article
- Copper homeostasis and cuproptosis in health and disease.Signal transduction and targeted therapy · 2022Review
- The Role of Copper Homeostasis in Brain Disease.International journal of molecular sciences · 2022Review
- Copper-histidine therapy in an infant with novel splice-site variant in theBMJ case reports · 2022Review
- Almost misdiagnosed Menkes disease: A case report.Heliyon · 2022Article
- Cardiomyopathies in Children and Systemic Disorders When Is It Useful to Look beyond the Heart?Journal of cardiovascular development and disease · 2022Review
- Dosage Compensation in Females with X-Linked Metabolic Disorders.International journal of molecular sciences · 2021Review
- Elesclomol alleviates Menkes pathology and mortality by escorting Cu to cuproenzymes in mice.Science (New York, N.Y.) · 2020Article
- ATP7A Clinical Genetics Resource - A comprehensive clinically annotated database and resource for genetic variants in ATP7A gene.Computational and structural biotechnology journal · 2020Article
- Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion).Molecular genetics & genomic medicine · 2019Article
- Arterial tortuosity in genetic arteriopathies.Current opinion in cardiology · 2015Review
- Impaired osteogenesis in Menkes disease-derived induced pluripotent stem cells.Stem cell research & therapy · 2015Article
- Role of optic microscopy for early diagnosis of Menkes disease.Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie · 2014Article
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Menkes disease is a very rare X-linked copper metabolism disorder that results from an ATP7A gene mutation. With the advent of subcutaneous copper-histidine therapy, the early diagnosis of Menkes disease becomes of utmost importance for patients' prognosis. In the present study, the clinical characteristics of 12 Korean patients with Menkes disease (11 males and 1 female from 11 unrelated families) were described along with the mutation spectrum. Only 2 male patients were diagnosed in the neonatal period, and the other male patients were diagnosed at age 4.3 ± 1.9 months. The presenting signs included depigmented kinky hair, neurologic deficits, and hypotonia. Serum copper and ceruloplasmin levels were markedly decreased. Intracranial vessels were dilated with tortuosity and accompanied by regional cerebral infarctions, even at an early age. Of note, the female patient was diagnosed at age 18 months, during the evaluation for developmental delay, by characteristic MRA findings, biochemical profiles, and genetic evaluation. A total of 11 ATP7A mutations were identified, including five previously unreported mutations. Most mutations were truncated (except 1 missense mutation), including 3 frameshift, 2 nonsense, 3 large deletion, and 2 splice-site variants. The age at commencement of copper-histidine treatment was variable among patients age 7.3 ± 7.5 (0.5-27) months. Despite the treatment, seven patients died before age 5 years, and the remaining patients were severely retarded in neurodevelopment. The poor outcomes of our patients might be related to delayed therapy, but severe ATP7A mutations should be noted as well.
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