Metabolic Disorders
Acid Sphingomyelinase Deficiency (ASMD)Acid Sphingomyelinase Deficiency (ASMD), also known as Niemann-Pick Disease Types A (NPD A) and Type B (NPD B), is a rare lysosomal storage disease.
Gaucher DiseaseGaucher disease (GD) is a genetic disorder in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells and certain organs. The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enla …
Lysosomal Storage DisordersLysosomal storage disorders (LSDs) are a group of about 50 genetic diseases caused by defects in lysosomal proteins or lysosomal related-proteins, which results in dysfunction of lysosomes.
Menkes DiseaseMenkes disease is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system.
Mucopolysaccharidosis type VII (Sly Syndrome)Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, is a rare, progressive lysosomal storage disease first described in 1973 by Dr. William Sly. It is caused by the inherited deficiency of the β-glucuronidase enzyme due to mutations in the beta-glucuronidase (GUSB) gene.
Niemann-Pick DiseaseNiemann-Pick disease (NPD) is a group of inherited metabolic disorders in which harmful quantities of a fatty substance (lipids) accumulate in the spleen, liver, lungs, bone marrow, and brain.
Peroxisome Biogenesis Disorder (Zellweger Spectrum Disorders)Overview Zellweger spectrum disorders (ZSDs) represent the major subgroup within the peroxisomal biogenesis disorders (PBD) caused by defects in PEX genes. The Zellweger spectrum is a clinical and biochemical continuum which can roughly be divided into …
Sanfilippo Syndrome (Mucopolysaccharidosis III)Other Names: Mucopolysaccharidosis III; Mucopoly-saccharidosis type 3A; Sanfilippo syndrome A; Heparan sulfate sulfatase deficiency Sanfilippo syndrome, or Mucopolysaccharidosis III (MPS-III) is a rare and progressive autosomal recessive lysosom …