Asia-Pacific Consensus Recommendations on X-Linked Hypophosphatemia: Diagnosis, Multidisciplinary Management, and Transition From Pediatric to Adult Care.

X-linked hypophosphatemia (XLH) is a rare, inherited, multisystem disorder characterized by hypophosphatemia that occurs secondary to renal phosphate wasting. Mutations in PHEX gene (located at Xp22.1) in XLH alter bone mineral metabolism, resulting in diverse skeletal, dental, and other extraskeletal abnormalities that become evident in early childhood and persist into adolescence and adult life.

Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region.

Introduction: Mucopolysaccharidosis (MPS) type VI (Maroteaux-Lamy syndrome) is a clinically heterogeneous lysosomal storage disorder. It presents significant diagnostic and treatment challenges due to the rarity of the disease and complexity of the phenotype. As information about MPS VI in Asia-Pacific countries is limited, a survey was conducted to assess current practices for diagnosis and management of MPS VI in this region.

Medical issues among children and teenagers with Down syndrome in Hong Kong.

Unlabelled: We examined the prevalence of medical problems in children and teenagers with Down syndrome in Hong Kong.

Methods: Children with Down syndrome receiving care from seven regional hospitals were included and their hospital records were reviewed. A total of 407 patients, aged between 0.

A novel nonsense mutation in the LPL gene in a Chinese neonate with hypertriglyceridemia.

Background: Lipoprotein lipase (LPL) deficiency is a rare autosomal recessive disorder characterized by hypertriglyceridemia. The genetic defect lies in a mutation of the LPL gene.

Methods: A Chinese neonate with non-consanguineous parents was incidentally found to have hypertriglyceridemia.