NARP Syndrome is a
NARP SYNDROME NARP syndrome is a mitochondrial function disorder. The main components of NARP syndrome are: Neuropathy (peripheral neuropathy which mostly affects sensory nerves) Ataxia Retinitis pigmentosa Other features include seizures, hearing loss and cardiac conduction defects. It occurs due to a mutation in the MT-ATP6 gene, which results in altered structure or function of mitochondrial ATP synthase leading to decreased ATP production. As it involves a mutation of mitochondrial DNA, it is inherited from mother to child (maternal inheritance). Other maternally inherited mitochondrial DNA disorders include: Leigh syndrome, Leber's hereditary optic neuropathy & Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes ( MELAS ) Ref :Harrison's Principles of Internal Medicine 21st ed .
Lysosomal storage disorder
Mitochondrial function disorder
Glycogen storage disorder
Golgi body transpo disorder
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