Metabolic disorders

Home Rare Disease Classifications Metabolic disorders Disorder of energy metabolism

Metabolic disorders ( Sub Categories )

Creatine deficiency syndrome

Creatine deficiency syndrome is a genetic disorder affecting the production or transport of creatine, essential for cellular energy, potentially causing developmental delays, muscle weakness, and seizures.

Disorder of fatty acid oxidation and ketone body metabolism

Fatty acid oxidation and ketone metabolism disorder is a condition that affects the body's ability to use fats for energy, potentially leading to low blood sugar, muscle weakness, and metabolic imbalances.

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Mitochondrial disease

Mitochondrial disease is a disorder affecting cellular energy production due to mitochondrial dysfunction, potentially causing fatigue, muscle weakness, and organ dysfunction.

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Pyruvate metabolism disorder

Pyruvate metabolism disorder is a condition that affects the conversion of pyruvate into energy, potentially leading to lactate buildup, fatigue, muscle weakness, and neurological complications.

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Tricarboxylic acid cycle disorder

Tricarboxylic acid cycle disorder is a rare condition affecting cellular energy production due to enzyme defects in the Krebs cycle, potentially causing fatigue, muscle weakness, and neurological issues.

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