Galc antibody
- Known as:
- Galc (anti-)
- Catalog number:
- orb100385
- Product Quantity:
- EUR
- Category:
- -
- Supplier:
- Biorbyt biorb
- Gene target:
- Galc antibody
Related genes to: Galc antibody
- Gene:
- GALC NIH gene
- Name:
- galactosylceramidase
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 14q31.3
- Locus Type:
- gene with protein product
- Date approved:
- 1989-06-02
- Date modifiied:
- 2016-10-05
Related products to: Galc antibody
Related articles to: Galc antibody
- Krabbe disease is a rare autosomal recessive leukodystrophy, typically considered a fatal disorder of infancy. Adult-onset forms are uncommon and diagnostically challenging due to their nonspecific presentations. - Source: PubMed
Publication date: 2026/08/24
Chong LiningLi YuanyuanWang YaliWang JianyuHan Jingzhe - Krabbe disease is an autosomal recessive leukodystrophy caused by a deficiency of the lysosomal enzyme galactosylceramidase (GALC), responsible for the degradation of galactolipids, resulting in toxic psychosine accumulation and progressive demyelination of the central and peripheral nervous systems. Newborn screening (NBS) has increased recognition of later-onset Krabbe disease, although interpretation of complex genotypes remains challenging, particularly in the presence of "pseudodeficiency" and modifier alleles. In this case report, we describe a child with late-infantile Krabbe disease identified through NBS with markedly reduced GALC activity and a homozygous haplotype containing c.956A>G (p.Tyr319Cys; Y319C) and c.1685T>C (p.Ile562Thr; I562T), in addition to other benign variants. Retrospective analysis of the newborn screening specimen demonstrated mild psychosine elevation. Despite preserved neurodevelopment, longitudinal surveillance demonstrated progressive cerebral white matter abnormalities by 3 years and 9 months of age and psychosine elevation in erythrocytes (14 pmol/g Hb; controls < 5), prompting umbilical cord blood transplantation (UCBT). Following transplantation, GALC enzyme activity normalized, psychosine levels decreased, and serial neuroimaging demonstrated radiographic stability without neurologic regression at last follow-up (9 years old). This case expands the phenotypic spectrum associated with homozygosity for the p.Tyr319Cys variant and highlights the role of p.Ile562Thr in amplifying the pathogenic potential when in cis with p.Tyr319Cys. This haplotype illustrates how "pseudodeficiency" and modifier alleles may collectively influence biochemical, radiologic, and clinical disease expression. These findings emphasize the importance of integrating genotype, psychosine, enzyme activity, and longitudinal neuroimaging when evaluating infants with NBS results positive for Krabbe disease. - Source: PubMed
Publication date: 2026/07/29
Schecter Daniel RDonnelly ColleenWhite AmyRaynes HillaryHeller GordonRajan DeepaSaavedra-Matiz Carlos AOrsini JosephBoelens Jaap-JanMatern DietrichGanesh Jaya - Background - Globoid cell leukodystrophy or Krabbe disease is a rare condition caused by biallelic pathogenic variants in the GALC gene. Accumulation of the metabolic intermedier galactosyl ceramide and psychosine leads to the death of myelin-producing cells. Demyelination results in large amounts of myelin debries that exceed the clearence capacity of microglial cells and macrophages and cause their transformation into globoid cells.Case presentation - We present the case of a currently 17 months old girl whose motor and cognitive development was noted to be delayed at 4 month of age. She had episodes of febrile enteritis followed by focal seizures and spasms with increasing frequency. Her neurological exam was significant for irritability, lack of eye contact, lethargy, increased limb tone, axial hypotonia, few spontaneous movements, sluggish deep reflexes, frequent myoclonus, and automatisms (chewing motions). The seizures were difficult to control. Her cranial MRI revealed confluent white matter abnormalities in the hemispheral white matter, cerebellum and brainstem suggesting an underlying metabolic abnormality. Whole exome sequencing identified two likely pathogenic variants in trans within the GALC gene, establishing the diagnosis of globoid cell leukodystrophy. At the time of diagnosis, hematopoietic stem cell transplantation (HSCT) was not recommended due to the advanced disease. Antiseizure medications and supportive therapy have been the means of controlling her symptoms.Conclusion - Infantile Krabbe disease is a severe progressive disorder leading to death in 2-3 years. The only currently approved disease modifying therapy is HSCT that is effective only in early stages and is not without risks itself. There are numerous preclinical and clinical studies involving various forms of corrective gene therapy that may halt or reverse the course of this dismal condition. - Source: PubMed
Sinkó GabriellaDénes EszterFarkas GáborTompa MártonKálmán Bernadette - To evaluate real-world implementation of newborn genetic screening (NBGS) in terms of positivity rate, carrier frequency, and diagnostic accuracy for inherited metabolic disorders (IMDs), and to explore feasibility and challenges in regional clinical application. This study enrolled 1590 newborns (August 2023-November 2024) whose parents opted for NBGS. A targeted sequencing panel covering 465 genes for 596 diseases alongside traditional biochemical screening for 46 disorders were performed. Variants were classified per ACMG guidelines. Positive cases were recalled for confirmatory Sanger sequencing and auxiliary biochemical tests. We calculated uptake, carrier frequency, identified hotspot variants, and compared allele frequencies with gnomAD_EAS. Diagnostic performance was compared with biochemical screening. Uptake was 10.41% (1590/15,272). Overall positivity was 7.74% (123/1590). Among these, 10 were positive for IMDs‑related genes, with 8 confirmed, giving a positive predictive value (PPV) of 80.00% for IMDs - significantly higher than biochemical screening's 5.71%. We detected 2,354 variants, with carrier frequency 70.94%. Hotspot IMDs variants included c.609G>A, c.658_660del, and c.1286A>G, whose minor allele frequencies differed from gnomAD, indicating regional specificity. High carrier rates were also seen for lysosomal storage genes ( c.1901T>C, 53.57%; c.2041G>A, 32.14%). NBGS offers high PPV and specificity, reducing false positives and providing early molecular evidence for IMDs. Regional hotspot and MAF differences underscore the need for a local genetic database. Although the acceptance of NBGS is increasing, factors such as cost and varying levels of awareness among healthcare providers remain barriers to its broader implementation. This study provides preliminary data supporting the implementation of regional newborn genetic screening programs and informs secondary and tertiary prevention strategies. - Source: PubMed
Publication date: 2026/07/09
Mu JialinSun MengLi YulinLi PanpanZou Hui - Parkinson's disease (PD) exhibits pronounced sex differences, yet the underlying genetic and molecular mechanisms remain poorly understood. We performed the largest-to-date meta-analysis of sex-stratified genome-wide association studies of PD followed by brain proteogenomics-based causal inference analyses. We nominated 10 candidate proteins that appear important to sex-biased PD risk, of which 2 female-biased, GALC and PSMG1, and 3 male-biased, ACTR1B, WDR41, and CD151, were most robustly prioritized. Together, our findings provide evidence for genetic sex differences in PD, prioritizing sex-biased proteins implicated in lysosomal regulation, neuroinflammation, lipid biology, and other PD-relevant mechanisms, and highlighting potential sex-informed therapeutic opportunities. - Source: PubMed
Publication date: 2026/06/25
Cook NoahZeng YoujieFu TianyiYang ChenyuSivasankaran Sathesh KNguyen Phuc Wingo Aliza PWingo Thomas SFoo Jia NeeDavis Albert AIbanez LauraCruchaga CarlosBelloy Michael E