4/28 - UWorld Flashcards
Enzymes of the TCA cycle that use B3 (NAD+)
Pyruvate dehydrogenase (pyruvate to acetyl CoA)
Isocitrate dehydrogenase (isocitrate to a-ketoglutarate)
Alpha-ketoglutarate dehydrogenase (a-ketoglutarate to succinyl CoA)
Malate dehydrogenase (malate to oxaloacetate )
Enzymes of the TCA cycle that use B2 (FAD)
Succinate dehydrogenase (succinate to fumarate)
What are the 2 enzyme deficiencies that may cause galactosemia, and which deficiency is more severe?
Galactokinase (Galactose -> galactose-1-P)
Uridyl transferase (Galactose-1-P –> Glucose-1-P) . . . More severe
Presentation of Galactosemia
Mild form (galactokinase deficiency) - infantile cataracts
Severe form (Uridyl transferase deficiency) - cataracts, jaundice, hepatomegaly, lethargy, intellectual disabilities)
Enzyme deficiency in sideroblastic anemia
ALA synthase
Affected enzymes in lead poisoning
Ferrochelatase and ALA dehydratase
Affected enzyme, presentation, and treatment of acute intermittent porphyria
Porphobilinogen deaminase
Symptoms – 5 P’s
Painful abdomen, Port wine colored urine (due to increase PGB), Polyneuropathy, Psychological disturbances, Precipitated by drugs (CYP450 inducers), alcohol, and starvation
Treatment: Glucose + heme = inhibition of ALA synthase
Affected enzyme and presentation of porphyria cutanea tarda
Deficiency of Uroporphyrinogen carboxylase
Symptoms - Blistering cutaneous photosensitivity and hyperpigmentation
What substance is responsible for inhibition of carnitine acyl transferase, thus inhibiting beta oxidation?
Malonyl CoA - in order to inhibit the breakdown of newly synthesized fatty acids
What are causes of homocysteinuria?
Homocysteine can be converted to methionine via methionine synthase + B12 or to cystathionine via cystathionine synthase B6
Homocysteinuria caused by deficiency in cystathionine synthase, decreased affinity of cystathionine synthase for B6, or methionine synthase
Presentation of homocysteinuria
Homocystine is a prothrombotic, which may lead to prematyre acute coronary syndrome
Homocysteine in urine
Marfanoid habitus
Ocular changes (downward and inward lens subluxation – vs. Marfan which is upward)
Kyphosis
Intellectual disability
Cause of cysteinuria
Defect in COLA transporter of proximal convoluted tubule (cystein, ornithine, lysine, arginine)
Can lead to hexagonal cysteine stones
Which lymph nodes does the skin drain to?
Above the umbilicus - Axillary
Below the umbilicus - Superficial inguinal
What lymph node does the rectum drain to?
Upper rectum - inferior mesenteric
Lower rectum - internal iliac
What lymph node does the anal canal drain to?
Above the pectinate line - internal iliac
Below the pectinate line - superficial inguinal