ATP synthase deficiency, a rare mitochondrial disorder, can manifest with a wide range of symptoms. The specific symptoms and their severity can vary significantly from person to person. Key symptoms associated with ATP synthase deficiency include:
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Muscular Hypotonia: Reduced muscle tone, leading to floppiness or weakness.
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Hypertrophic Cardiomyopathy: Thickening of the heart muscle, which can impair its ability to pump blood effectively.
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Psychomotor Delay: Slower than expected development of motor and cognitive skills.
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Encephalopathy: A general term referring to brain dysfunction, which can cause various neurological problems.
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Peripheral Neuropathy: Damage to the nerves outside of the brain and spinal cord, leading to weakness, numbness, and pain in the extremities.
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Lactic Acidosis: A buildup of lactic acid in the body, leading to symptoms such as nausea, vomiting, abdominal pain, and rapid breathing.
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3-Methylglutaconic Aciduria: Elevated levels of 3-methylglutaconic acid in the urine.
It's important to note that the presence and severity of these symptoms can vary greatly depending on the specific genetic mutation and the affected tissues. Diagnosis requires specialized testing, and treatment is focused on managing symptoms and providing supportive care.
