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Many genetic disease panels, from amino acid metabolism to storage diseases, from dyslipidemia to diabetes at an early age, are in Gen Era.
Most inherited metabolic diseases are caused by mutations in the enzyme-producing genes. Enzyme deficiency or loss of activity results in accumulation of substrate precursors or metabolites or deficiency of enzyme products. For this reason, hundreds of metabolic diseases are the subject of you, although rare on their own, they collectively encompass an important population. Diseases are grouped by the name of the affected substrate (eg fatty acid, amino acid, carbohydrate).
Next-generation sequencing in metabolic diseases:
- Amino Acid Metabolism Disorders and Organic Acidemias
- Copper Metabolism Disorders
- Dyslipidemia, Cholesterol Biosynthesis and Bile Acid Synthesis Disorders
- Mitochondrial Fatty Acid Oxidation Disorders
- Glycogen Storage Diseases
- Lysosomal Storage Diseases
- Maple Syrup Disease
- Creatine Deficiency Syndromes and Peroxisomal Diseases
- Hyperammonemia
- Hypogonadism
- Hypopituitarism
- Monogenic Syndromic Obesity
- It can be used for genetic diagnosis of many diseases such as MODY (Adult Type Diabetes in Youth).
