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Inborn errors of metabolism are often referred to as congenital metabolic diseases or inherited metabolic disorders. [2] Another term used to describe these disorders is "enzymopathies". This term was created following the study of biodynamic enzymology , a science based on the study of the enzymes and their products.
Sly syndrome, also called mucopolysaccharidosis type VII (MPS-VII), is an autosomal recessive lysosomal storage disease caused by a deficiency of the enzyme β-glucuronidase. This enzyme is responsible for breaking down large sugar molecules called glycosaminoglycans (AKA GAGs, or mucopolysaccharides). The inability to break down GAGs leads to ...
Exocrine pancreatic insufficiency (EPI) is the inability to properly digest food due to a lack or reduction of digestive enzymes made by the pancreas.EPI can occur in humans and is prevalent in many conditions [1] such as cystic fibrosis, [2] Shwachman–Diamond syndrome, [3] different types of pancreatitis, [4] multiple types of diabetes mellitus (Type 1 and Type 2 diabetes), [5] advanced ...
It is an X-linked recessive disorder that results in defective glucose-6-phosphate dehydrogenase enzyme. [1] Glucose-6-phosphate dehydrogenase is an enzyme that protects red blood cells, which carry oxygen from the lungs to tissues throughout the body. A defect of the enzyme results in the premature breakdown of red blood cells.
The disease may present clinically with seizures, hypopigmentation (excessively fair hair and skin), and a "musty odor" to the baby's sweat and urine (due to phenylacetate, a carboxylic acid produced by the oxidation of phenylacetone). In most cases, a repeat test should be done at approximately two weeks of age to verify the initial test and ...
Glycogen storage disease type VII or Tarui's disease [1] [2] A rendering of the human muscular form of phosphofructokinase. Mutations in the production of this enzyme are the cause of Tarui's disease. [3] The symmetry of the enzyme is a result of its tetrameric structure. Specialty: Endocrinology Symptoms: Muscle pain, exercise intolerance ...
Lysosomal storage diseases (LSDs; / ˌ l aɪ s ə ˈ s oʊ m əl /) are a group of over 70 rare inherited metabolic disorders that result from defects in lysosomal function. [1] [2] Lysosomes are sacs of enzymes within cells that digest large molecules and pass the fragments on to other parts of the cell for recycling. This process requires ...
Enzyme assays (testing a variety of cells or body fluids in culture for enzyme deficiency) are also used to provide definitive diagnosis of one of the mucopolysaccharidoses. Prenatal diagnosis using amniocentesis and chorionic villus sampling can verify if a fetus either carries a copy of the defective gene or is affected with the disorder.