Rare diseases (RDs) are the clinical conditions affecting a few percentage of individuals in a
general population compared to other diseases. Limited clinical information and a lack of …

Lysosomal storage disorders (LSDs) are a group of seventy different metabolic storage
diseases due to accumulation of substrate mainly in the form of carbohydrate, lipids …

Abstract Background Acid Sphingomyelinase Deficiency (ASMD) is a rare autosomal
recessive disorder caused by mutations in the SMPD1 gene. This rarity contributes to …

Abstract Niemann‐Pick disease Types A and B (NPA/B) are autosomal recessive disorders
caused by variants in the sphingomyelin phosphodiesterase‐1 (SMPD1) gene. This study …

Lysosomal acid sphingomyelinase (ASM), a critical enzyme in lipid metabolism encoded by
the SMPD1 gene, plays a crucial role in sphingomyelin hydrolysis in lysosomes. ASM …

Breakdown of the inert and constitutive membrane building block sphingomyelin to the
highly active lipid mediator ceramide by extracellularly active acid sphingomyelinase is …

Pathogenic variations in SMPD1 lead to acid sphingomyelinase deficiency (ASMD), that is,
Niemann‐Pick disease (NPD) type A and B (NPA, NPB), which is a recessive lysosomal …

Sphingomyelin phosphodiesterase (SMPD1) is a key enzyme in the sphingolipid
metabolism. Genetic SMPD1 variants have been related to the Niemann-Pick lysosomal …

Glycogen storage disease type III (GSD III) is a rare autosomal recessive inborn error of
glycogen degradation pathway due to deficiency or reduced activity of glycogen …

Acid sphingomyelinase (ASM) deficiency (ASMD) is a spectrum that includes Niemann–Pick
disease (NPD) types A (NPD A) and B (NPD B). ASMD is characterized by intracellular …