A pedigree of Menkes' kinky hair disease (MKHD) is reported. One patient of this family who underwent copper treatment was followed for three years with fundus examinations and ERG measurement. The blood copper level remained normal after six months of age, when intravenous treatment was switched from cupric acetate to cupric sulfate. Optic nerve atrophy and decrease in amplitude of the ERG were observed at three years of age. In an experiment using mouse models of MKHD (macular mouse mutant, Moml), we compared the affected mice that received copper treatment with normal mice. However, there was no difference between them in ERG responses, number of ganglion cells, or thickness of retinal layers. These results support the possibility of prolonged survival and maintained vision in the patients of MKHD by earlier normalization of the copper level.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/BF00158032 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Novel, likely pathogenic variant in associated with Menkes disease diagnosed with ultrarapid genome sequencing.
BMJ Case Rep
October 2024
Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA
Article Synopsis
- - Menkes disease is a serious neurodegenerative disorder caused by problems with copper absorption, marked by symptoms like 'kinky' hair and developmental delays starting at 2-3 months old, and it follows an X-linked recessive inheritance pattern.
- - Historically, diagnosing Menkes has been challenging due to variable symptoms, often taking months, but new ultrarapid genome sequencing technology allows for quicker DNA-based diagnoses in just hours.
- - Recent case studies have used this sequencing tech to identify new genetic variants related to Menkes disease, paving the way for faster treatment and potentially better long-term health outcomes.
Phenotypic and mutational spectrum of 17 Chinese patients with Menkes Disease.
Neurol Sci
January 2025
Department of Neurology, West China Hospital, Sichuan University, Chengdu, China.
Background: Menkes Disease (MD) is a fatal X-linked recessive disorder caused by mutations in the ATP7A gene. Severe cases typically die before the age of three. Mild MD and occipital horn syndrome are variants of MD characterized by a less severe phenotype and longer survival.
View Article and Find Full Text PDFBrain and the whole-body bone imaging appearances in Menkes disease: a case report and literature review.
BMC Pediatr
June 2024
Department of Radiology, West China Second University Hospital of Sichuan University, Chengdu, 610041, Sichuan Province, People's Republic of China.
Article Synopsis
- Menkes disease is a rare genetic disorder that affects copper metabolism, leading to various health issues, particularly in the nervous system and connective tissues.
- Diagnostic markers like serum copper and ceruloplasmin levels are unreliable, making imaging techniques crucial for identifying the disease.
- A case study of a 4-month-old boy highlighted significant neurological symptoms and imaging findings, confirming Menkes disease through genetic testing, but unfortunately, treatment did not improve his condition, resulting in his death three months later.
[Not Available].
Arq Neuropsiquiatr
May 2024
Rady Children's Hospital, San Diego California, United States.
Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant.
Sci Rep
January 2024
Division of Human Genetics, Center for Molecular Medicine, Jichi Medical University, Shimotsuke, Tochigi, Japan.
Article Synopsis
- Menkes disease is a rare condition caused by a problem with how the body processes copper, which is linked to changes in a specific gene called ATP7A.
- A 7-month-old girl with Menkes disease showed serious challenges like learning difficulties and low copper levels, while her mother and grandmother carried the same gene change but weren’t affected.
- Researchers found that the way X chromosomes were "switched on or off" in the family helped the girl develop Menkes disease, while her mom and grandma didn't have problems because of how their genes worked.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!