Niemann-Pick Disease - Types, Causes, Symptoms, Diagnosis & Treatment
Niemann–Pick disease is a group of inherited metabolic disorders in which cholesterol and lipids accumulate in lysosomes, leading to organ damage.
Niemann–Pick disease is a group of inherited metabolic disorders in which cholesterol and lipids accumulate in lysosomes, leading to organ damage.
‘Lysosomal storage disorders are inherited metabolic diseases that are characterized by an abnormal build-up of various toxic materials in the body's cells as a result of enzyme deficiencies.’
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Fabry disease interferes with the body’s ability to break down a specific fatty substance (globotriaosylceramide or Gb3). Over 8,000-10,000 people worldwide have been affected by the disease. Hunter Syndrome is a serious genetic disorder that interferes with the body’s ability to break down specific mucopolysaccharides, also known as glycosaminoglycans or GAGs. It primarily affects males.
Gaucher is a rare inherited metabolic condition that affects approximately one in 100,000 people. Patients with type-1 Gaucher disease may experience varying symptoms and degrees of disease severity, making it difficult to diagnose.
Mucopolysaccharidosis | Inborn Metabolic Diseases - Types, Symptoms, Diagnosis, Treatment
Mucopolysaccharidosis (MPS) are a group of inborn metabolic disorders due to the absence or malfunctioning of specific enzymes required to process molecules called glycosaminoglycans.
Mucopolysaccharidosis (MPS) are a group of inborn metabolic disorders due to the absence or malfunctioning of specific enzymes required to process molecules called glycosaminoglycans.
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Inborn Errors of Metabolism - Causes, Types, Symptoms, Diagnosis & Treatment
Inborn errors of metabolism are genetic disorders that hamper the body’s metabolism resulting in severe clinical manifestations.
Inborn errors of metabolism are genetic disorders that hamper the body’s metabolism resulting in severe clinical manifestations.
About Genetic Testing
Genetic testing helps to confirm a genetic condition in an individual and involves q complex laboratory techniques
Genetic testing helps to confirm a genetic condition in an individual and involves q complex laboratory techniques
