Carbohydrate disorders Alteration of Lactose intolerance Hypoglycaemia carbohydrate cycling in Gycogen storage Lactic acidosis the cell disorders Cataract formation problems Peroxisomal disease Disorders of lipid Zellweger syndrome Hypotonia metabolism where there Seizures are empty cell persoxisomes Mitochondrial disease Mutations in Mitocondrial myopathies Lots mitochondrial DNA. e.g. diabetes mellitus Most serious when and deafness, Leber’s affects muscle, brain. hereditary optic neuropathy Lysosomal storage Various defects in Gauncher’s disease Present late (adulthood) disorders lysosomal function that Niemann-Pick disease lead to accumulation of Tay-Sachs disease toxic substances
Carbohydrate disorders Alteration of carbohydrate cycling in the cell Lactose intolerance Gycogen storage disorders Hypoglycaemia Lactic acidosis Cataract formation problems Peroxisomal disease Disorders of lipid metabolism where there are empty cell persoxisomes Zellweger syndrome Hypotonia Seizures Mitochondrial disease Mutations in mitochondrial DNA. Most serious when affects muscle, brain. Mitocondrial myopathies e.g. diabetes mellitus and deafness, Leber’s hereditary optic neuropathy Lots Lysosomal storage disorders Various defects in lysosomal function that lead to accumulation of toxic substances Gauncher’s disease Niemann-Pick disease Tay-Sachs disease Present late (adulthood)
Chem-Path-Revision-Notes.docx