Metabolic disorders
Metabolic disorders ( Sub Categories )
Disorder of porphyrin and heme metabolism
Porphyrin and heme metabolism disorder is a condition affecting heme production, leading to porphyrin accumulation in the body, potentially causing skin symptoms, neurological issues, and blood disorders.
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Disorder of purine or pyrimidine metabolism
Purine or pyrimidine metabolism disorder is a condition affecting the breakdown or synthesis of these nitrogenous bases, potentially leading to toxic accumulations, neurological issues, gout attacks, or immune dysfunctions.
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Lysosomal disease
Lysosomal disorder is a group of genetic diseases affecting lysosome function, which is responsible for breaking down substances in cells. Dysfunction leads to harmful accumulations, causing neurological, skeletal, and organ-related issues.
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Other metabolic disease
Other metabolic diseases encompass a group of rare inherited disorders affecting the body's metabolic processes, potentially leading to energy production issues, toxic substance accumulation, and growth or vital function abnormalities.
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Peroxisomal disease
Peroxisomal disorder is a group of rare genetic conditions affecting peroxisome function, leading to impaired fatty acid metabolism and detoxification, causing neurological issues, liver dysfunction, and abnormal development.
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