AI Article Synopsis
- A new type of X-linked liver glycogen storage disease was identified, characterized by liver enlargement and growth retardation, but differs from classical X-linked liver glycogenosis due to the absence of phosphorylase kinase deficiency.
- Linkage analysis of four families localized the disease gene to Xp22, identifying genetic markers that show a strong connection to the condition.
- The authors propose classifying this new variant as XLG type II, differentiating it from the classical XLG type I, suggesting both may stem from mutations in the same gene (PHKA2).
Article Abstract
We describe here a new type of X-linked liver glycogen storage disease. The main symptoms include liver enlargement and growth retardation. The clinical and biochemical abnormalities of this glycogenosis are similar to those of classical X-linked liver glycogenosis due to phosphorylase kinase deficiency (XLG). However, in contrast to patients with XLG, the patients described here have no reduced phosphorylase kinase activity in erythrocytes and leukocytes, and no enzyme deficiency could be found. Linkage analysis of four families with this X-linked type of liver glycogenosis assigned the disease gene to Xp22. Lod scores obtained with the markers DXS987, DXS207, and DXS999 were 3.97, 2.71, and 2.40, respectively, all at 0% recombination. Multipoint linkage analysis localized the disease gene between DXS143 and DXS989 with a maximum lod score of 4.70 at theta = 0, relative to DXS987. As both the classical XLG gene and the liver alpha-subunit of PHK (PHKA2) are also located in Xp22, this variant type of XLG may be allelic to classical XLG, and both diseases may be caused by mutations in PHKA2. Therefore, we propose to classify XLG as XLG type I (the classical type of XLG) and XLG type II (the variant type of XLG).
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1006/geno.1994.1322 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Simpson-Golabi-Behmel syndrome type 1 in a neonate with central hepatoblastoma.
BMJ Case Rep
January 2025
Division of Neonatology, Kasturba Medical College Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
We report a neonate evaluated for hepatomegaly during hospitalisation and was diagnosed to have hepatoblastoma, an uncommon childhood malignancy. The presence of dysmorphism, macrosomia and congenital heart defect led to the suspicion of congenital overgrowth conditions. The genetic evaluation revealed a pathogenic variant, conclusive of Simpson-Golabi-Behmel syndrome type 1 (SGBS1).
View Article and Find Full Text PDFModulation of DAPK1 expression by its alternative splice variant DAPK1-215 in cancer.
J Transl Med
January 2025
Fujian-Macao Science and Technology Cooperation Base of Traditional Chinese Medicine-Oriented Chronic Disease Prevention and Treatment, Academy of Integrative Medicine, Fujian University of Traditional Chinese Medicine, Fuzhou, 350001, China.
Background: Death-Associated Protein Kinase 1 (DAPK1) family members are calcium/calmodulin-regulated serine/threonine kinases implicated in cell death, normal development, and human diseases. However, the regulation of DAPK1 expression in cancer remains unclear.
Methods: We examined the expression and functional impact of a DAPK1 splice variant, DAPK1-215, in multiple cancer cell lines.
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.
Nat Rev Nephrol
January 2025
APHP, Reference Center for Rare Diseases of Calcium and Phosphate Metabolism, and Filière OSCAR, endo ERN and ERN BOND, Paris, France.
X-linked hypophosphataemia (XLH) is a rare metabolic bone disorder caused by pathogenic variants in the PHEX gene, which is predominantly expressed in osteoblasts, osteocytes and odontoblasts. XLH is characterized by increased synthesis of the bone-derived phosphaturic hormone fibroblast growth factor 23 (FGF23), which results in renal phosphate wasting with consecutive hypophosphataemia, rickets, osteomalacia, disproportionate short stature, oral manifestations, pseudofractures, craniosynostosis, enthesopathies and osteoarthritis. Patients with XLH should be provided with multidisciplinary care organized by a metabolic bone expert.
View Article and Find Full Text PDFReal-world assessment of the patient profile, clinical characteristics, treatment patterns, and outcomes associated with erythropoietic and X-linked protoporphyria.
J Dermatol
January 2025
Mitsubishi Tanabe Pharma America, Inc., Jersey City, New Jersey, USA.
Article Synopsis
- Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare genetic disorders that lack comprehensive management data, prompting a study of their characteristics and treatment in real-world U.S. settings.
- The study reviewed medical records of 299 EPP and 91 XLP patients, revealing a mean diagnosis delay of 2.9 years and highlighting common pre-diagnostic tests and lifestyle recommendations.
- Findings indicated a significant number of healthcare visits post-diagnosis and identified unmet needs, such as the need for quicker diagnoses, effective symptom relief, and better prevention of phototoxic reactions.
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!