Notes in 06 Metabolic Disorders: Screening and Treatment Strategies

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Published	06/21/2024	A(n) {{c1::chaperone}} protein, is an intracellular protein involved in facilitating and/or maintaining protein {{c2::folding}}
Published	06/21/2024	The enzyme {{c1::α-galactosidase A}} is deficient in {{c2::Fabry}} disease
Published	06/21/2024	What is the mode of inheritance of Fabry disease?{{c1::X-linked recessive}}
Published	06/21/2024	What substrate accumulates in the lysosomes of a patient with Fabry disease? {{c1::Ceramide trihexoside (globotriaosylceramide)}}
Published	06/21/2024	Early Fabry disease presents with a triad of {{c1::peripheral neuropathy}}, {{c2::angiokeratomas}}, and {{c3::hypohidrosis}}
Published	06/21/2024	Late Fabry disease presents with progressive {{c1::renal}} failure and {{c2::cardiovascular}} disease
Published	06/21/2024	If methylmalonyl-CoA mutase is dysfunctional, {{c1::methylmalonic acid}} accumulates in the blood and urine
Published	06/21/2024	Enzyme Replacement Therapy for {{c1::Fabry Disease}} requires replacement of {{c2::alpha-galactosidase A}}
Published	06/21/2024	{{c1::Fabry disease::lysosomal storage disease}} presents with a triad of peripheral neuropathy, angiokeratomas, and hypohidrosis (lack of sweat)
Published	06/21/2024	Phenylketonuria screening should be done at what age: {{c1::Newborn screening}}
Published	06/21/2024	Fabry disease is categorized as a(n) {{c1::lysosomal storage}} disease
Published	06/21/2024	Every baby born in Texas gets two newborn screening blood tests, one at {{c1::24-48h of life}} and the second at {{c2::1-2 wks of life}}
Published	06/21/2024	Newborn screening {{c1::is NOT::is/isn't}} diagnostic
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Published	06/21/2024	The goal of {{c1::chaperone}} therapy is to {{c2::use molecules that protect enzymes from degradation/misfolding}}
Published	06/21/2024	The goal of {{c1::substrate reduction}} therapy is to {{c2::inhbit synthesis of the molecules that are aberrantly accumulated}}
Published	06/21/2024	The goal of {{c1::gene}} therapy is to {{c2::correct the genetic variant and thus the enzyme deficiency}}
Published	06/21/2024	The 4 enzyme-targeted treatment strategies are {{c1::Enzyme ReplacementChaperone TherapySubstrate Reduction TherapyGene Therapy}}
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