Notes in Genetic Metabolic Diseases

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Published	12/09/2024	Neuronal Storage Diseases → involve accumulation of storage materials within neurons typically followed by {{c1::neuronal death}}{{c2::Tay-Sachs disea…
Published	12/09/2024	Neuronal Storage Diseases → involve accumulation of storage materials within neurons typically followed by neuronal deathTay-Sachs disease {…
Published	12/09/2024	Neuronal Storage Diseases → involve accumulation of storage materials within neurons typically followed by neuronal deathTay-Sachs disease N…
Published	12/09/2024	{{c1::Leukodystrophies}}Krabbe DiseasesMetachromatic LeukodystrophyAdrenoleukodystrophy
Published	12/09/2024	Krabbe Diseases Autosomal recessive Due to deficiency of {{c1::galactocerebroside B-galactosidase }}Rapidly progressive Onset between {…
Published	12/09/2024	Metachromatic Leukodystrophy Autosomal recessive Due to deficiency of the {{c1::lysosomal enzyme}}, {{c2::arylsulfatase A }}Demyelination wi…
Published	12/09/2024	AdrenoleukodystrophyX-linked recessiveLoss-of-function mutations in {{c1::ABCD1 }}Young boys present with behavioral changes and adrenal insuffic…
Published	12/09/2024	{{c1::Mitochondrial Encephalomyopathies}}MelasMERRFLeigh Syndrome
Published	12/09/2024	Mitochondrial EncephalomyopathiesDisorders of {{c1::energy generation}}Exhibit {{c2::heteroplasmy}} → there are both wild-type and mutated mitochondri…
Published	12/09/2024	Melas Mitochondrial {{c1::encephalomyopathy}}, {{c2::lactic acidosis}}, and {{c3::stroke-like episodes}} Recurrent episodes of acute {{c4::n…
Published	12/09/2024	MERRF Myoclonic epilepsy with {{c1::ragged red fibers }}Maternally transmitted Myoclonus (seizure disorder) and a myopathy characterized by …
Published	12/09/2024	Leigh SyndromeDisease of {{c1::infancy }}Lactic acidemia, arrest of psychomotor development, feeding problems, seizures, extraocular palsies and …
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