Progressive neurodegeneration, developmental delay, cherry-red spot on macula, lysosomes with onion skin, no hepatosplenomegaly (vs. Hepatosplenomegaly, aseptic necrosis of femur, bone crises, Gaucher's cells (macrophages that look like crumpled tissue paper)ġ.
Gaucher's disease (the most common lysosomal storage disease)ġ. What is the inheritance of Lysosomal Storage diseases?Īll are autosomal recessive except Fabry's disease which is X-linked recessive peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease Increased glycogen in muscle, but cannot break it down, leading to painful muscle cramps, myoglobinuria with strenuous exerciseĢ. milder form of von gierke's disease with normal blood lactate level, gluconeogenesis is intact Lysosomal alpha-1,4-glucosidase (acid maltase)ġ. Pompe's trashes the Pump (heart, liver and muscle)Ĭardiomegaly and systemic findings leading to early deathĢ. severe fasting hypoglycemia, increased glycogen in liver, inc. Which amino acids are acidic and which are basic?Īcidic: Asp and Glu (negatively charged at body pH)ġ. What are the essential amino acids and which are glucogenic, ketogenic or both? What are the only purely ketogenic amino acids?Ĭongenital or acquired (as in alcoholics due to B1 deficiency), the findings are neurologic deficits, treat with inc. What can cause Pyruvate dehydrogenase deficiency and what are the findings? What does the pyruvate dehydrogenase complex consist of? These are often added to penicillin antibiotics to protect the antibiotic from destruction by beta-lactamase Which antibiotics are the Beta-lactamase inhibitors? Click here to study/print these flashcards.Ĭreate your own flash cards! Sign up here.Ĭauses of Increased Anion Gap Metabolic Acidosis
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