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Mitochondrial Disease
A group of disorders affecting how the body produces energy.
Phenylketonuria (PKU)
A rare inherited metabolic condition that affects the body’s ability to break down the amino acid phenylalanine.
Maple Syrup Urine Disease (MSUD)
A rare inherited metabolic condition that affects the body’s ability to break down certain amino acids.
Tay-Sachs Disease
A rare genetic disorder that affects nerve cells in the brain and spinal cord.
Gaucher Disease
A condition where fatty substances build up in certain organs.
Pompe Disease
A rare inherited metabolic condition in which glycogen builds up in cells and can affect muscles and other parts of the body.
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