Notes in 04. Mendelian Disorders Diseases

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Published	11/19/2024	Give the six lysosomal storage disease
Published	11/19/2024	Figure 11. Lysosomal Storage Diseases
Published	11/19/2024	When the catabolism of substrate of missing enzyme remains incomplete, this leads to {{c1::accumulation }} of {{c2::partially degraded}} insolubl…
Published	11/19/2024	Normal degradation of complex substrate is via which lysosomal enzymes?
Published	11/19/2024	Normal degradation of complex substrate is via lysosomalenzymes A, B, C results into what products?
Published	11/19/2024	2 implications of the deficiency or malfunction in enzyme
Published	11/19/2024	In secondary storage, autophagy, mitochondrial function, and lysosomes exist with tight linkage. Its ultimate goal is {{c1::quality control}} to degra…
Published	11/19/2024	In secondary storage, if the accumulation of dysfunctional products is greater than the rate of autophagy this results in {{c1::toxic effects}}.
Published	11/19/2024	Main treatment of lysosomal storage disease is {{c1::enzymereplacement therapy}}
Published	11/19/2024	The main treatment for lysosomal storage disease is enzymereplacement therapy. Give the other 3 approaches that may be used for its treatment.
Published	11/19/2024	Treatment approach to lysosomal storage disease which uses competitive inhibition principle
Published	11/19/2024	GM2 Gangliosidosis: Hexosaminidase a-Subunit deficiency
Published	11/19/2024	In Tay-Sachs Disease, this enzyme is absent from virtually all the tissues.
Published	11/19/2024	In Tay-Sachs Disease, this enzyme accumulates in many tissues.
Published	11/19/2024	Tay-Sachs Disease clinical pictureInvolvement of neurons in {{c1::CNS, PNS, retina}}
Published	11/19/2024	Tay-Sachs Disease results from mutations in {{c1::α-subunit}} locus on chromosome {{c1::15}} which cause severe deficiency of Hexosaminidase A.
Published	11/19/2024	Tay-Sachs Disease is more common in {{c1::Jews}}, especially those of Eastern European (Ashkenazic) origin.
Published	11/19/2024	→ Group of 3 lysosomal storage diseases→ Caused by deficiency of enzyme β-hexosaminidase→ Results in inability to catabolize GM2 gangliosides
Published	11/19/2024	GM2 gangliosidoses are caused by deficiency of enzyme {{c1::β-hexosaminidase}}
Published	11/19/2024	GM2 gangliosidoses results in inability to catabolize {{c1::GM2 gangliosides}}
Published	11/19/2024	Clinical finding in Tay-sachs disease characterized by the ff:Accentuates normal color of macular choroidContrasts pallor from swollen ganglion cells …
Published	11/19/2024	Upon histological examination, neurons in Tay-Sachs dies are ballooned with cytoplasmic vacuoles d/t markedly distendedlysosome filled with {{c1::gang…
Published	11/19/2024	Upon histological examination, the visualization of cytoplasmic inclusions show the prominent whorled configurations within lysosomes with characteris…
Published	11/19/2024	Word Associations→ Tay-Sachs = {{c1::gangliosides}} = {{c1::hexosaminidase A}}
Published	11/19/2024	Characterized by lysosomal accumulation of sphingomyelin due toan inherited deficiency of sphingomyelinase
Published	11/19/2024	{{c1::image-occlusion:rect:left=.3178:top=.4948:width=.2249:height=.0928:oi=1}}{{c2::image-occlusion:rect:left=.1024:top=.0857:width=.2471:height=.051…
Published	11/19/2024	Hepatocytes and Kupffer cells have a foamy, vacuolatedappearance due to {{c1::deposition of lipids}}
Published	11/19/2024	Like Tay-Sachs Disease, this is common in Ashkenazic Jews.
Published	11/19/2024	Niemann-Pick Disease Type characterized with the ff:→ Severe infantile form with extensive neurologic involvement→ Progressive wasting and early death…
Published	11/19/2024	Niemann-Pick Disease Type characterized by the ff:→ Organomegaly present but generally no CNS involvement→ Patients usually survive into adulthood
Published	11/19/2024	A retinal cherry-red spot similar to that seen in Tay-Sachs diseaseis present in about ⅓ to ½ of affected individuals
Published	11/19/2024	In Niemann-Pick Disease Type A & B, affected cells become enlarged, sometimes to 90 μm in diameter, due to the distention of lysosomes with {{c1::…
Published	11/19/2024	In Niemann-Pick Disease Type A and B, innumerable small vacuoles of relatively uniform size are created imparting foaminess to the {{c1::cytoplasm}}.
Published	11/19/2024	● May present as        → Hydrops fetalis and stillbirth        → Neonatal hepatitis      &nbsp…
Published	11/19/2024	Niemann-Pick Disease Type C is due to a primary defect in {{c1::nonenzymatic lipid transport}}
Published	11/19/2024	Clinical course→ Ataxia→ Vertical supranuclear gaze palsy→ Dystonia→ Dysarthria→ Psychomotor regression
Published	11/19/2024	Distinct at the biochemical and genetic levels and is more commonthan types A and B combined
Published	11/19/2024	Mutations in two related genes, {{c1::NPC1 and NPC2}} can give rise to Niemann-Pick disease type C, with {{c1::NPC1}} being responsible for 95% of cas…
Published	11/19/2024	Most common lysosomal storage disorder
Published	11/19/2024	Gaucher DiseaseAffected gene encodes {{c1::glucocerebrosidase}}
Published	11/19/2024	An enzyme that normally cleaves the glucose residue fromceramide
Published	11/19/2024	Gaucher Cells plump macrophages appearance like crumpledtissue paper due to accumulation of {{c1::glucocerebroside}}
Published	11/19/2024	Gaucher Disease is a cluster of {{c1::autosomal recessive}} disorders resulting from mutations in the gene encoding glucocerebrosidase
Published	11/19/2024	Glucocerebrosidase mutations also serve as the most common known genetic risk factor of {{c1::Parkinson’s disease}}
Published	11/19/2024	In Gaucher Disease, {{c1::Glucocerebrosides}} primarily accumulate in phagocytes all throughout the body. With some of it subtypes character…
Published	11/19/2024	What are the clinical subtypes of Gaucher Disease
Published	11/19/2024	Clinical subtypes of Gaucher Disease▪ Most common, accounting for 99% of cases▪ Chronic non neuronopathic form▪ Storage of glucocerebrosides is limite…
Published	11/19/2024	2 Common presentations of Type 1 Gaucher Disease
Published	11/19/2024	In Type 1 Gaucher Disease, the storage of glucocerebrosides is limited to the {{c1::mononuclear}} phagocytes throughout the body without inv…
Published	11/19/2024	Clinical subtypes of Gaucher Disease▪ Acute neuronopathic Gaucher disease▪ Infantile acute cerebral pattern
Published	11/19/2024	Clinical subtypes of Gaucher Disease▪ Intermediate between types 1 and 2▪ Systemic involvement from Type 1 with progressive CNSdisease onset in adoles…
Published	11/19/2024	What are the clinical manifestations for Type 2 and 3 Gaucher disease?
Published	11/19/2024	→ Distended phagocytic cells like crumpled paper       ▪ Enlarged with one or more dark eccentrically placed nuclei
Published	11/19/2024	Management for Gaucher Disease
Published	11/19/2024	Group of closely related syndromes that result from geneticallydetermined deficiencies of enzymes involved in the degradation ofmucopolysaccharides (g…
Published	11/19/2024	All MPSs are inherited as autosomal {{c1::recessive}} traits
Published	11/19/2024	All MPSs are inherited as autosomal recessive traits. Which MPS is an exception, inherited as an X- linked recessive trait?
Published	11/19/2024	MPSs inherited as an X- linked recessive trait
Published	11/19/2024	4 Glycosaminoglycans that accumulate in MPSs
Published	11/19/2024	MPSs are progressive disorders characterized by what clinical features?
Published	11/19/2024	Diagnostic tool for MPSs
Published	11/19/2024	→ Hurler syndrome→ Results from a deficiency of α-L-iduronidase→ One of the most severe forms of MPS
Published	11/19/2024	MPS I-H results from a deficiency of {{c1::α-L-iduronidase}}
Published	11/19/2024	→ Hunter syndrome→ Differs from Hurler syndrome in mode of inheritance (X-linked)→ Absence of corneal clouding and milder clinical course
Published	11/19/2024	MPS II is also known as
Published	11/19/2024	MPS I-H is also known as
Published	11/19/2024	This diseases result from a hereditary deficiency of oneof the enzymes involved in the synthesis or sequential degradationof glycogen.
Published	11/19/2024	{{c1::image-occlusion:rect:left=.0171:top=.0077:width=.2709:height=.0886:oi=1}}{{c2::image-occlusion:rect:left=.1303:top=.1426:width=.3042:height=.053…
Published	11/19/2024	The most common form of Glycogen Storage Disease is the {{c1::hepatic}} form.
Published	11/19/2024	Deficiency of the enzyme {{c1::glucose-6-phosphatase}} (von Gierkedisease, or type I glycogenosis)→ Prime example of the {{c2::hepatic-hypoglycemic}} …
Published	11/19/2024	Glycogen storage disease with deficiency of the enzyme glucose-6-phosphatase
Published	11/19/2024	Other examples of glycogen storage disease is characterized by the deficiency of liver {{c1::phosphorylase}} and {{c2::debranching enzyme}} both invol…
Published	11/19/2024	If the enzymes that fuel the glycolytic pathway are deficient,glycogen storage occurs in the {{c1::muscles}} and is associated with {{c2::muscular wea…
Published	11/19/2024	Glycogen storage disease that is characterized by the deficienciyof muscle phosphorylase
Published	11/19/2024	Glycogen storage disease that is characterized by the deficiency in muscle phosphofructokinase
Published	11/19/2024	Glycogen storage diseases associated with the deficieincy of lysosomal storage of glycogen
Published	11/19/2024	→ Lysosomal enzyme→ Deficiency leads to lysosomal storage of glycogen (type IIglycogenosis, or Pompe Disease), in all organs with cardiomegaly as the …
Published	11/19/2024	● Glycogen storage diseases associated with:→ Deficiency of acid {{c1::alpha-glucosidase}} (acid maltase)→ Lack of {{c2::branching enzyme}}  &nbs…
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