1,091 results match your criteria: "Menkes Kinky Hair Disease"
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.
Brain 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.
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.
Response of Fibroblasts from Menkes' and Wilson's Copper Metabolism-Related Disorders to Ionizing Radiation: Influence of the Nucleo-Shuttling of the ATM Protein Kinase.
Biomolecules
December 2023
INSERM U1296 Unit "Radiation: Defense, Health, Environment", Centre Léon-Bérard, 69008 Lyon, France.
Article Synopsis
- Menkes' disease and Wilson's disease are genetic disorders related to copper metabolism caused by mutations in specific genes, and cells from these diseases show a response to DNA damage that hasn't been thoroughly explored yet.
- In experiments with skin fibroblast lines from both diseases, cells exhibited moderate sensitivity to radiation, with delays in key processes that recognize and repair DNA damage, attributed to interactions of a copper-related protein with crucial repair proteins.
- The study suggests that ionizing radiation might worsen the clinical aspects of Menkes' and Wilson's diseases, highlighting the need for caution when these patients undergo radiation-related medical procedures.
[Analysis of clinical characteristics and ATP7A gene variants in a Chinese pedigree affected with Menkes disease].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
December 2023
Key Laboratory of Obstetrics and Gynecologic and Pediatric Diseases and Birth Defects of the Ministry of Education, Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan 610041, China.
Article Synopsis
- The study examined a child diagnosed with Menkes disease to understand the clinical features and genetic variants associated with the ATP7A gene.
- Key clinical signs included seizures, developmental delays, distinctive facial features, and abnormal hair, alongside abnormal lab results showing increased lactate and pyruvate levels.
- Whole exome sequencing identified a pathogenic ATP7A gene variant that could explain the child's condition, providing valuable insights for diagnosis and management of Menkes disease.
Massive thrombosis in internal jugular phlebectasia in Menkes disease.
Pediatr Int
November 2023
Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Japan.
Diagnosis of Menke-Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs.
Mol Genet Genomic Med
September 2023
Service de médecine génomique des maladies rares, AP-HP.Centre, Institut Imagine, Hôpital Universitaire Necker-Enfants Malades, Paris, France.
Article Synopsis
- CREBBP mutations can cause multiple syndromes, including Rubinstein-Taybi syndrome and a newer condition called Menke-Hennekam syndrome, linked to specific missense mutations.
- A case study involved a fetus with observable abnormalities, where whole exome sequencing identified a CREBBP mutation known to lead to Menke-Hennekam syndrome.
- Prenatal diagnosis of this rare syndrome relies on molecular methods like WES since the symptoms are often vague and varied, highlighting the need for genetic testing when unusual signs are detected during pregnancy.
[Clinical and genetic analysis of three children with Menkes disease due to variants of ATP7A gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
June 2023
Children's Medical Center, the Affiliated Hospital of Guangdong Medical University, Zhanjiang, Guangdong 524001, China.
Article Synopsis
- The study aimed to investigate the clinical traits and genetic causes of Menkes disease in three affected children.
- The researchers collected clinical data and performed whole exome sequencing (WES) on blood samples from the children and their families to identify genetic variants.
- Two specific genetic mutations in the ATP7A gene were found, indicating that these mutations are likely responsible for Menkes disease in the affected children.
Ethics in pre-ART genetics: a missed X-linked Menkes disease case.
J Assist Reprod Genet
April 2023
Department of Genetics, Copenhagen University Hospital, Rigshospital, Copenhagen, Denmark.
Article Synopsis
- Assisted reproductive technology (ART) has improved a lot, making it common to use egg and sperm donors in fertility clinics.
- Genetic testing helps find problems with genes quickly and cheaply, but mistakes can still happen, like not identifying a harmful gene in an egg donor.
- A company called IVI Igenomix is working on a better screening program to find serious genetic disorders in babies born through ART to avoid such problems in the future.
ATP7A-related copper transport disorders: A systematic review and definition of the clinical subtypes.
J Inherit Metab Dis
March 2023
Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.
In patients with ATP7A-related disorders, counseling is challenging due to clinical overlap between the entities, the absence of predictive biomarkers and a clear genotype-phenotype correlation. We performed a systematic literature review by querying the MEDLINE and Embase databases identifying 143 relevant papers. We recorded data on the phenotype and genotype in 162 individuals with a molecularly confirmed ATP7A-related disorder in order to identify differentiating clinical criteria, evaluate genotype-phenotype correlations and propose management guidelines.
View Article and Find Full Text PDFAtp7b-dependent choroid plexus dysfunction causes transient copper deficit and metabolic changes in the developing mouse brain.
PLoS Genet
January 2023
Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Article Synopsis
- Copper is super important for how our brains grow and work, and there are two key proteins (Atp7a and Atp7b) that help control Copper levels in our bodies.
- Atp7a helps Copper get into the brain and work with enzymes, while Atp7b is needed for healthy brain shapes and connections, especially in a specific area called the choroid plexus.
- If Atp7b isn't working right, it can lead to a Copper shortage in the brain, which causes issues with brain chemicals and fat levels, making it harder for the brain to function well.
Evaluation of hair structural abnormalities in children with different neurological diseases.
Turk J Pediatr
January 2023
Division of Pediatric Neurology, Department of Pediatrics, Gaziantep University Faculty of Medicine, Gaziantep, Türkiye.
Article Synopsis
- Hair microscopy is a quick diagnostic tool that can help identify various diseases affecting hair, especially in pediatric neurology patients with hair shaft disorders.* -
- The study analyzed 16 children with unique hair issues, revealing conditions like giant axonal neuropathy and Griscelli syndrome through specific hair characteristics identified during microscopic evaluation.* -
- The findings suggest that incorporating hair examinations into physical and neurological assessments can lead to earlier detection of rare diseases related to abnormal hair conditions.*
Fatal congenital copper transport defect caused by a homozygous likely pathogenic variant of SLC31A1.
Clin Genet
May 2023
Department of Neonatology, Charité Universitätsmedizin Berlin, Berlin, Germany.
Article Synopsis
- A newborn with a homozygous pathogenic variant in the SLC31A1 gene was studied, which affects copper transport and causes severe health issues.
- The infant experienced serious complications such as pulmonary hypoplasia, respiratory distress, and brain hemorrhages, leading to partial control of seizures and coma.
- This case contributes to the understanding of genetic disorders related to copper transport, highlighting the significance of the SLC31A1 gene alongside ATP7A and ATP7B.
Decreased Expression of the Gene and Cytoplasmic Relocalization of Membrane CTR1 Protein in Renal Epithelial Cells: A Potent Protective Mechanism against Copper Nephrotoxicity in a Mouse Model of Menkes Disease.
Int J Mol Sci
September 2022
Laboratory of Genetics and Evolution, Institute of Zoology and Biomedical Research, Jagiellonian University, Gronostajowa 9, 30-387 Kraków, Poland.
Article Synopsis
- Kidneys are crucial for managing copper levels in the body, with proximal tubule cells taking up copper from urine and releasing it into the bloodstream, using transporters CTR1 and ATP7A.
- In mutant mice with a dysfunctional ATP7A, which model Menkes disease, there's a notable copper deficiency despite excess copper in the kidneys, highlighting the need for copper therapy for survival.
- The study found that while mutant mice have high renal copper levels, the expression of CTR1 mRNA does not increase, and CRC1 protein relocation to the cytoplasm occurs, which may protect cells from copper toxicity by inhibiting copper transport.
Copper-histidine therapy in an infant with novel splice-site variant in the gene of Menkes disease: the first experience in South East Asia and literature review.
BMJ Case Rep
April 2022
Pediatric Nutrition Research Unit, Division of Nutrition, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, The Thai Red Cross Society, Bangkok, Thailand
Article Synopsis
- A 4-month-old boy showed symptoms like curly hair, pale skin, seizures, and development delays.
- Although he received treatment to help with his hair and some blood levels, he sadly passed away at 9.5 months due to a severe infection.
Menkes Disease: Clinical Presentation and Imaging Characteristics.
Neuropediatrics
June 2022
Division of Neurology, Departments of Neurology and Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States.
Usefulness of Trichoscopy over Hair Light Microscopy in Menkes Disease.
Skin Appendage Disord
January 2022
Dermatology Department, Instituto Nacional de Pediatría, Mexico City, Mexico.
Article Synopsis
- - Menkes disease (MD) is a rare genetic disorder that primarily affects boys, leading to severe neurological issues and high mortality, especially within the first three years of life due to copper distribution problems.
- - A key characteristic of MD is hair shaft dysplasia, specifically a condition called pili torti, which becomes more visible in the first year of life and can be detected with microscopic examination.
- - This report highlights a case where trichoscopy (using a dermatoscope) proved to be more effective than traditional light microscopy in identifying the hair shaft defects associated with MD in a Hispanic male infant.
Menkes Disease.
Arch Iran Med
December 2021
Pathology Department, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Pharmacokinetics of CuGTSM, a Novel Drug Candidate, in a Mouse Model of Menkes Disease.
Pharm Res
August 2021
Research Institute of Pharmaceutical Sciences, Musashino University, Tokyo, Japan.
Purpose: Menkes disease is a rare hereditary disease in which systemic deficiency of copper due to mutation of the ATP7A gene causes severe neurodegenerative disorders. The present parenteral drugs have limited efficacy, so there is a need for an efficacious drug that can be administered orally. This study focused on glyoxal-bis (N(4)-methylthiosemicarbazonato)-copper(II (CuGTSM), which has shown efficacy in macular mice, a murine model of Menkes disease, and examined its pharmacokinetics.
View Article and Find Full Text PDFWhole-Exome Sequencing, Proteome Landscape, and Immune Cell Migration Patterns in a Clinical Context of Menkes Disease.
Genes (Basel)
May 2021
Department of Histology, Universidad Autónoma de Nuevo León, Facultad de Medicina, Monterrey 64460, Mexico.
Article Synopsis
- Menkes disease (MD) is a rare X-linked recessive disorder that affects copper transport due to mutations in the ATPase copper transporting α (ATP7A) gene, often leading to severe health issues and early mortality.
- A case study of an 8-month-old male patient displaying symptoms such as silvery hair, hypotonia, seizures, and low ceruloplasmin levels was analyzed using trio-whole-exome sequencing and plasma proteome screening.
- The study identified a specific mutation in the ATP7A gene and observed significant changes in plasma protein levels, with many downregulated proteins related to cellular transport and immune processes, indicating their potential relevance to the clinical features of Menkes disease.
Article Synopsis
- Menkes disease is a serious condition that affects how the body uses copper and mainly affects boys because it's linked to the X chromosome.
- A case study was presented about a 17-month-old boy who had problems like seizures, skin and hair changes, and not developing as he should.
- Doctors confirmed he had low copper levels, and tests showed brain damage, including loss of important brain cells and other changes that are typical in Menkes disease.
Hair Abnormalities: Key to Suspecting Menkes Disease.
Actas Dermosifiliogr
July 2021
Departamento de Dermatología, Hospital Universitario Son Espases, Palma de Mallorca, España.
[Pedigree study and analysis of ATP7A gene variants in three children with Menkes disease].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
February 2021
Department of Pediatric Neurology, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.
Article Synopsis
- The study aimed to investigate the genetic causes of Menkes disease in three affected children by focusing on the ATP7A gene.
- Researchers used next-generation sequencing (NGS) and Sanger sequencing, along with multiplex ligation-dependent probe amplification, to identify gene variants and confirm findings among relatives and healthy individuals.
- They discovered unique variants in each family, including a novel nonsense variant and a deletion, which were deemed likely pathogenic and will help improve clinical diagnosis and understanding of Menkes disease.
Repurposing elesclomol, an investigational drug for the treatment of copper metabolism disorders.
Expert Opin Investig Drugs
January 2021
Department of Biochemistry and Biophysics, Texas A&M University , College Station, TX, USA.