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A systematic review and evidence-based guideline for diagnosis and treatment of Menkes disease.
- Source :
-
Molecular genetics and metabolism [Mol Genet Metab] 2019 Jan; Vol. 126 (1), pp. 6-13. Date of Electronic Publication: 2018 Dec 11. - Publication Year :
- 2019
-
Abstract
- Menkes disease is a rare X-linked neurodegenerative disorder caused by defect in copper metabolism. Parenteral copper supplementation has been used as a potential disease-modifying treatment of Menkes disease for decades. However, recent evidence suggests its efficacy only when treatment is started within days after birth, which also has important implications related to the techniques that enable early diagnosis. We aim at proposing a guideline for prenatal and neonatal diagnosis and for disease-modifying treatment of Menkes disease, guided by a systematic review of the literature, and built in conjunction with medical experts, methodologists and patient representatives. Thirteen articles were used for our recommendations that were based on GRADE system. Reviewed evidence suggests that prenatal genetic diagnosis in families with previous diagnosis of Menkes disease is feasible; analysis of plasma catecholamine levels is accurate for neonatal diagnosis of Menkes disease; treatment with copper-histidine is effective to increase survival and reduce neurologic burden of the disease if initiated in the neonatal period; and, treatment indication should not be guided by patient's genotype. In conclusion, our guideline can contribute to standardize some aspects of the clinical care of patients with Menkes disease, especially reducing disease burden and mortality and providers' and families' anxiety.<br /> (Copyright © 2018 Elsevier Inc. All rights reserved.)
- Subjects :
- Catecholamines blood
Clinical Trials as Topic
Copper therapeutic use
Early Diagnosis
Female
Humans
Male
Menkes Kinky Hair Syndrome genetics
Mutation
Pregnancy
Copper metabolism
Menkes Kinky Hair Syndrome diagnosis
Menkes Kinky Hair Syndrome drug therapy
Practice Guidelines as Topic
Prenatal Diagnosis
Subjects
Details
- Language :
- English
- ISSN :
- 1096-7206
- Volume :
- 126
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Molecular genetics and metabolism
- Publication Type :
- Academic Journal
- Accession number :
- 30594472
- Full Text :
- https://doi.org/10.1016/j.ymgme.2018.12.005