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Definitions (35)
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Point mutation
The substitution of one nucleotide for another nucleotide amino acid on a gene.
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hypo
means less than normal (i.e. hypotonic means less than normal muscle tone)
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emia
and
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uria
Refers to urine: (i.e. aminoaciduria means amino acids in the urine)
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ADP
Adenosine diphosphate; the low energy product produced when ATP releases energy to the cell.
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ALPER DISEASE
Progressive Infantile Poliodystrophy. Cases of Alper disease may be caused by disorders of oxidative phosphorylation, including mitochondrial DNA depletion syndromes.
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ataxia
Un-coordination; Inability to coordinate the muscles in voluntary movement.
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BETA-OXIDATION
A series of metabolic reactions necessary for burning fatty acids (fats). * Back to Top *
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carnitine
(beta-hydroxy-gamma-N-trimiethylamino-butyrate). Responsible for the transport of long chain fatty acids into mitochondria.
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CNS
Central nervous system (the brain and spinal cord).
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