Introduction Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy and is an X-linked recessive genetic disorder caused by deficiency of dystrophin. The DMD gene is located on Xp21, […]
Background Inborn errors of metabolism (IEMs) are rare genetic disorders caused by loss or deficiency of important enzymatic functions. This can result in accumulation of toxic substances, disruption of metabolic […]
1. Overview Inborn errors of metabolism (IEMs) are monogenic inherited disorders caused by defects in specific metabolic enzymes or proteins. These defects interfere with normal biochemical pathways and can result […]
1. Overview Duchenne muscular dystrophy (DMD) is an X-linked neuromuscular disorder caused by variants in the DMD gene, located on chromosome Xp21. It affects approximately 1 in 6,000 live male […]
1. Overview Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene, resulting in deficient activity of the lysosomal enzyme α-galactosidase A (α-Gal […]
Abstract Gaucher disease (GD) is a rare lysosomal storage disorder caused by a deficiency of the enzyme acid β-glucosidase, which leads to the buildup of glucocerebroside lipids in different organs. […]
1. Overview of Fabry Disease Fabry disease (FD) is a progressive, multisystemic, X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene. These variants lead to reduced or […]
1. Overview of Fabry Disease Fabry disease (FD) is a progressive, multisystemic, X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene. These variants lead to reduced or […]
intrduction Phenylketonuria (PKU) is an autosomal recessive inherited metabolic disorder caused by pathogenic variants in the PAH gene, which encodes phenylalanine hydroxylase (PAH). PAH, together with its cofactor tetrahydrobiopterin (BH4), […]
1. Introduction Patients with Gaucher disease, their caregivers, families, and patient organizations have raised increasing concerns about switching medicines used to treat this rare condition. Several treatments have demonstrated safety […]
