Lesch nyhan syndrome - Study guides, Class notes & Summaries

Lesch-Nyhan Syndrome: what causes it and what are manifestations? correct answers HGPRT deficiency in purine salvage pathway (this enzyme normally converts hypoxanthine to IMP and guanine to GMP). This deficiency leads to excessive Uric acid production and de novo purine synthesis. It is X linked recessive. Symptoms: hyperuricemia, gout, aggression / self mutilation, mental retardation, dystonia. Treatment for Lesch-Nyhan? correct answers Allopurinol / febuxostat second line. Both of these dr...

USMLE Step 1 - uWorld High Yield Notes with 100% Correct Score What are the two major microtubular motor proteins? Which does anterograde axonal transport, which does retrograde axonal transport? - Correct Answer ️️ -Kinesin, Dynein Kinesin: Anterograde Dynein: Retrograde` What do you think, immunologically speaking, when you see someone with recurrent Neisseria infections? - Correct Answer ️️ -Inability to form the membrane attack (MAC) complex this is a common complement defi...

USLME – Biochemistry Exam Questions With Accurate Answers. Amino acids necessary for purine synthesis - answerGlycine Aspartate Glutamine Leflunomide MOA - answerinhibits dihydroorotate dehydrogenase 5-fluorouracil and capecitabine (its prodrug) MOA - answerForm 5-F-dUMP which inhibits thymidylate synthase (therefore decreasing dTMP) Adenosine deaminase deficiency (Pathogenesis, presentation) - answerADA needed for degradation of adenosine Deficiency causes: excess ATP and dATP --&gt...

SCNM Biochem Q2 Exam 2Purines are made up of the following - correct answer Aspartic Acid (N1), N10 Formyl THF (C2,8),glutamine (N3,9), glycine (n7), Co2 (c6) ADP and GDP slow down the rate of making - correct answer PRPP Rate limiting substance in purine synthesis - correct answer PRPP Rate limiting enzyme - correct answer Glutamine phosphoribosyle pyrophosphate amido transferase Glutamine Phosphoribosyle pyrophosphate amido transferase is inhibited by - correct answer AMP,ADP,ATP (...

CBSE Biochem Exam Review 2024| Questions and Answers Lesch-Nyhan Syndrome: what causes it and what are manifestations? **

Serum electrophoresis Correct Answer First peak is albumin Alpha 1 globulins = alpha antitrypsin, alpha 1 antichymotrypsin, TBG, Alpha 2 globulins = haptoglobulin, macroglobulin, ceruloplasmin, TBG, protein C, angiotensinogen Beta = beta 2 microglobin, plasminogen, angiostatins, SHBG, transferrin Gamma = Ig Serum electrophoresis in multiple myeloma Correct Answer gamma spike Serum electrophoresis blurring beta 2 and gamma regions Correct Answer increased CRP Increased iga A/w re...

USMLE Step 1 - uWorld High Yield Notes Rated A What are the two major microtubular motor proteins? Which does anterograde axonal transport, which does retrograde axonal transport? Kinesin, Dynein Kinesin: Anterograde Dynein: Retrograde` What do you think, immunologically speaking, when you see someone with recurrent Neisseria infections? Inability to form the membrane attack (MAC) complex this is a common complement deficiency What is the defect in Chronic Granulomatous disease? ...

Abdominal pain, ascites, hepatomegaly, (also high D dimer, CHF without JVD) - Answer Budd-Chiari syndrome Achilles tendon xanthoma - Answer Familial hypercholesterolemia Adrenal hemorrhage, hypotension, DIC - Answer Waterhouse-Friderichsen syndrome (meningococcemia) Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints - Answer Marfan's (fibrillin defect) Athlete with polycythemia - Answer Erythropoietin injection Back pain, fever, night sweats, weight loss - ...

CBSE Biochem Exam With 100% Correct And Verified Answers 2024

Genetic Counseling Boards Review Exam Questions and Answers Summer 2023/2024. LMNA G608G - A young patient (5yrs) presents for the first time to a new dentist with crowded teeth, making them very hard to clean. In further exploration of the issue, she learns that the child had delayed eruption of his teeth. The patient's mother also relays that her pediatrician has several times noted how prominent the veins of his scalp are and his short stature. However, she thinks that this is just par...