Notes in L29 - Disorders of Monosaccharide Metabolism

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Published	11/02/2024	Can the pancreas make insulin in MODY2?{{c1::Yes}}
Published	11/02/2024	{{c1::Celiac disease}} is an example of an aquired ({{c1::secondary}}) disaccharidase deficiency
Published	11/02/2024	Fructose is absorbed by enterocytes via {{c1::GLUT5}} channels and secreted from enterocytes into the blood via {{c1::GLUT2}} channelsBonus: are eithe…
Published	11/02/2024	Pompe disease (aka glycogen storage disease type {{c1::II}})Inheritance pattern: {{c1::autosomal recessive}}Deficient enzyme: {{c1::lysosomal α-1,4 gl…
Published	11/02/2024	Cori disease (type {{c1::III}} glycogen storage disorder)Inheritance pattern: {{c1::autosomal recessive}}Defective enzyme: {{c1::glycogen debranching …
Published	11/02/2024	most monosaccharide metabolism disorders are diagnosed through {{c1::neonatal screenings}} and involve both {{c1::genetic}} and {{c1::environmental}} …
Published	11/02/2024	because the enzymes of glycolysis are present in {{c1::all tissues}}, a complete deficiency of an enzyme would be {{c1::lethal}}
Published	11/02/2024	{{c1::Pyruvate Kinase (PK)}} deficiency is the most common glycolytic enzyme deficiency. It is inherited in an {{c1::autosomal recessive}} fashion
Published	11/02/2024	PK deficiency presents as {{c1::hemolytic anemia}} and {{c1::jaundice}}
Published	11/02/2024	PK deficiency is treated with {{c1::blood transfusions}} or sometimes with {{c1::removal of the spleen}}
Published	11/02/2024	glucokinase deficiency is {{c1::autosomal dominant::inheritance}} and manifests as {{c1::asymptomatic hyperglycemia}} or {{c1::insulin-dependent diabe…
Published	11/02/2024	{{c2::heterozygotes}} for glucokinase deficiency are unable to {{c1::secrete insulin normally}}, though they have the normal capacity for insulin synt…
Published	11/02/2024	{{c2::homozygotes}} for glucokinase deficiency results in {{c1::intrauterine growth retardation}} and {{c1::insulin-treated diabetes from birth}}
Published	11/02/2024	glucokinase deficiency can cause a specific type of diabetes called {{c1::Maturity Onset Diabetes of the Young type 2, or MODY2}}
Published	11/02/2024	glucokinase is expressed in the {{c1::liver}} and {{c1::pancreatic β cells}} and acts as a {{c1::glucose sensor}}. when {{c2::glucokinase}} levels are…
Published	11/02/2024	disaccharidases are present in the {{c1::brush border membrane of the small intestine}}
Published	11/02/2024	trehalase deficiency is an {{c1::autosomal recessive::inheritance}} disaccharidase deficiency for {{c1::trehalose}}, which is found in {{c1::mushrooms…
Published	11/02/2024	people lacking trehalase will experience {{c1::gas/diarrhea}} upon consumption of trehalose. it is treated through {{c1::avoidance of mushrooms and ot…
Published	11/02/2024	many people lose {{c1::90}}% or more of their {{c2::lactase::enzyme}} by adulthood
Published	11/02/2024	Celiac disease is an {{c1::autoimmune}} disease that requires complete avoidance of {{c1::gluten}}
Published	11/02/2024	fructose metabolism occurs in the {{c1::liver}} and involves two enzymes, {{c1::fructokinase}} and {{c1::aldolase B}}
Published	11/02/2024	fructokinase {{c1::adds a phosphate to fructose::action}}
Published	11/02/2024	aldolase B cleaves {{c1::phosphorylated fructose (F1P or F1,6BP)}} into {{c1::glycolytic intermediates}}
Published	11/02/2024	essential fructosuria ({{c1::fructokinase}} deficiency) is an autosomal recessive disorder that manifests due to accumulation of fructose in the {{c1:…
Published	11/02/2024	what is the treatment for essential fructosuria?{{c1::there is none - it is relatively harmless}}
Published	11/02/2024	hereditary fructose intolerance ({{c1::aldolase B}} deficiency) is an {{c1::autosomal recessive::inheritance}} disorder that can manifest as {{c1::sev…
Published	11/02/2024	Hereditary Fructose Intolerance (aldolase B deficiency) involves an accumulation of {{c1::phosphorylated fructose}} in {{c1::liver}} cells that result…
Published	11/02/2024	galactose is metabolized in the {{c1::liver}} and is {{c1::phosphorylated}} then attached to {{c1::UDP}} and then altered
Published	11/02/2024	what are the 3 types of genetic galactose metabolism deficiencies?{{c1::GALT - type IGALK1 - type IIGALE - type III}}
Published	11/02/2024	GALT (galactose deficiency type {{c1::I}}) aka {{c1::"classic galactosemia"}} is an autosomal recessive {{c1::galctose-1-phosphate uridyltransferase}}…
Published	11/02/2024	Galactokinase deficiency, GALK, (type {{c1::II}}) is an {{c1::autosomal recessive::inheritance}} disorder that can cause {{c1::cataracts}} through acc…
Published	11/02/2024	aldose reductase converts {{c1::galactose}} to {{c1::galacticol}}, which can cause osmotic problems leading to {{c1::cataracts}}
Published	11/02/2024	Galactose epimerase deficiency, GALE (type {{c1::III}}), is an {{c1::autosomal recessive::inheritance}} deficiency that can cause {{c1::anemia}}. ther…
Published	11/02/2024	which galactose deficiency is most severe?{{c1::GALT (type I) - most severe}}
Published	11/02/2024	glycogen storage diseases are {{c1::autosomal recessive::inheritance}} and cause {{c1::enlarged organs}} due to accumulated glycogen
Published	11/02/2024	{{c1::Von Gierke Disease, GSD type I,}} is the most common glycogen storage disease and involves a defiency in {{c1::G6Pase}} in the {{c1::liver}}. {{…
Published	11/02/2024	the treatment for Von Gierke Disease is {{c1::nocturnal infusions of glucose}}
Published	11/02/2024	McArdle syndrome (GSD type V) involves a deficiency of {{c1::skeletal muscle glcogen phosphorylase}} that causes {{c1::weakness and cramping::symptoms…
Published	11/02/2024	a deficiency in {{c2::skeletal muscle glycogen phosphorylase}} results in an accumulation of {{c1::glycogen}} that can't be converted to {{c1::lactic …
Published	11/02/2024	in GSD:{{c1::hypoglycemia}} occurs if unable to access {{c2::liver}} glycogen{{c1::exercise related problems}} occur if unable to access {{c2::muscle}…
Published	11/02/2024	G6PD deficiency is an {{c1::X-linked recessive}} trait that can cause {{c1::oxidant-stress-induced hemolytic anemia}}
Published	11/02/2024	what can induce oxidant stress?{{c1::infectionsantibioticsantimalarialsantipyreticsfava beans}}
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