Metabolic Disorders (Q4 and Q5) Flashcards
Wet Beriberi disease is a type of
Thiamine deficiency
Wernicke-Korsakoff syndrome is a type of
Thiamine deficiency
Two characterizations of Wernicke-Korsakoff syndrome
Wernicke encephalopathy (reversible mental derangements and delirium)
Korsakoff pyschosis (chronic stage)
3 main symptoms of thiamine deficiency
Energy deficiency
Lactic acidosis
Neurological damage
Condition caused by mutations in one of 30+ different genes involved in energy production in the mitochondria
Leigh Syndrome
Leigh syndrome largely affects this part of the body
Neurological
Does Wernicke-Korsakoff syndrome involve lactic acidosis?
Yes
Does Leigh Syndrome involve lactic acidosis?
Yes
Arsenite inhibits enzymes using this molecule
Lipoic acid
(Pyruvate dehydrogenase and alpha-ketoglutarate dehydrogenase)
Condition caused by deficiency in glucose-6-phosphatase or its transport system
Type I: Von Gierke disease
Glycogen condition caused by deficiency in lysosomal alpha-1,4-glucosidase
Type II: Pompe disease
Condition caused by deficiency in glycogen debranching enzyme
Type III: Cori disease
Condition caused by deficiency in glycogen branching enzyme
Type IV: Andersen disease
Condition caused by deficiency in glycogen phosphorylase in muscle
Type V: McArdle disease
Condition caused by deficiency in glycogen phosphorylase in liver
Typce VI: Hers disease
Organ(s) affected in Type I: Von Gierke disease
Liver and kidney
Organ(s) affected in Type II: Pompe disease
All organs
Organ(s) affected in Type III: Cori disease
Muscle and liver
Organ(s) affected in Type IV: Andersen disease
Liver and spleen
Organ(s) affected in Type V: McArdle disease
Muscle
Organ(s) affected in Type VI: Hers disease
Liver
Effect on glycogen amount/structure in Type III: Cori disease
Increased amount
Shorter outer branches
Effect on glycogen amount/structure in Type IV: Andersen disease
Normal amount
Very long outer branches
Glycogen condition characterized by limited ability to perform strenuous exercise because of painful muscle cramps
Type V: McArdle disease
Glycogen condition characterized by massive enlargement of liver, failure to thrive, severe hypoglycemia, ketosis, hyperuricemia, hyperlipidemia
Type I: Von Gierke disease
Glycogen condition characterized by progressive cirrhosis of the liver, and liver failure usually causes death before age 2
Type IV: Andersen disease
Enzyme deficient in Type V: McArdle syndrome
Skeletal muscle glycogen phosphorylase
Enzyme deficient in Type VI: Hers disease
Liver glycogen phosphorylase
Enzyme deficient in Type II: Pompe disease
Lysosomal alpha(1–>4) glucosidase
Enzyme deficient in Type III: Cori disease
Debranching enzyme
Enzyme deficient in Type I: Von Gierke disease
Glucose-6-phosphatase
Name for Type I glycogen disease
Von Gierke disease
Name for Type II glycogen disease
Pompe disease
Name for Type III glycogen disease
Cori disease
Name for Type IV glycogen disease
Andersen disease
Name for Type V glycogen disease
McArdle disease
Name for Type VI glycogen disease
Hers disease
Autoimmune mitochondrial disease that is the leading cause of blindness in young men
Leber’s hereditary optic neuropathy (LHON)
Condition caused by a lack of NADPH oxidase in phagocytic cells
Results in susceptibility to bacterial, fungal infections and abnormal inflammatory responses
Chronic granulomatous disease
Chronic granulomatous disease involves a lack of this enzyme
NADPH oxidase in phagocytic cells
Lysosomal storage disease that is an alpha-L-iduronidase deficiency
Most severe form
Corneal clouding, mental retardation, dwarfing, coarse (dysmorphic) facial features
Degradation of dermatan sulfate and heparan sulfate are affected (so levels of these are increased)
Hurler syndrome
Hurler syndrome is a deficiency in this
Alpha-L-iduronidase
Hunter syndrome is a deficiency in this
Iduronate sulfatase
X-linked lysosomal storage disease that is an iduronate sulfatase deficiency
Degradation of dermatan sulfate and heparan sulfate are affected (so levels of these are increased)
Wide range of severity; no corneal clouding but physical deformity and mental retardation are mild to severe
Hunter syndrome
Condition caused by an absence of peroxisomes, leading to accumulation of VLCFAs
Very severe, patients frequently born blind, deaf, unable to eat, and die by 6 months of age
Zellweger Syndrome
Zellweger syndrome is caused by an absence of these
Peroxisomes
Zellweger syndrome involves an accumulation of this
Very long chain fatty acids