Glycogen Storage Disease IXc with PHKG2 Mutation and Psoriatic-Like Lesions: A Rare Case

• 發表在: Journal of Liaquat National Hospital
• Main Authors: Shamail Zia, Farozaan Shamail, Fazail Zia, Naeem Uddin, Vardah Zia, Shamsa Naeem, Abdullah Yahya
• 格式: Article
• 語言: 英语
• 出版: Liaquat National Hospital and Medical College 2025-08-01
• 主題: glycogen storage disease; phkg2; psoriasis; glycogen metabolism; autosomal recessive
• 在線閱讀: https://journals.lnh.edu.pk/jlnh/pdf/ec55bab5-8b85-4d85-89d9-c83a439d9202.pdf
• ISSN: 2959-1805; 2960-2963

Glycogen storage diseases (GSDs) cause glycogen metabolism disorders in the human body and are genetically determined metabolic illnesses. Due to sufficient glycogen or its diseased states, glycogen is accumulated in the human body tissues due to the enzymatic defect during glycogenolysis/glycogenesis. Pathogenic transformations in the PHKG2 are related to a very unusual ailment called GSD-IXc distinguished by serious complications of the liver. Here, a case report of a patient is presented with no clinical history given but with obvious hepatomegaly and fatty infiltrations along with psoriasis-like lesions. Genetic testing revealed c.431T>C variant which is expected to cause substitution in an amino acid p.Leu144Pro. The results upturn the gene spectrum and accord with elucidating the clinical presentation of PHKG2 transformations. Special attention to this case should be given due to the sturdy link between lactose dehydrogenase-A deficiency (GSD type XI) that validates several skin wounds associated with the ailment e.g. pustular psoriasis-like lesions, desquamating erythematous-squamous lesions, etc.