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...

BIO 315 Exam 1 Questions and Answers 100% Pass Humans have 23 pairs of chromosomes. Chromosomes 1-22 are best referred to as ______. a. Centromeres b. Autosomes c. Karyotype d. Nuclei e. Sex chromosomes - Correct Answer ️️ -B How many DNA molecules would be found in a single chromosome? a. 4 b. 10 c. More than 10 d. 1 e. 2 - Correct Answer ️️ -D An alternate form of a gene is called a(n) ________. a. Allele b. Exome c. Genome d. Chromosomes e. mutation - Correct Answer...

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

Lesch-Nyhan Syndrome: what causes it and what are manifestations? Correct Answer 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 Answer Allopurinol / febuxostat second line. Both of these drug...

Lesch-Nyhan Syndrome: what causes it and what are manifestations? - ***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. 2. Treatment for Lesch-Nyhan? - ***Allopurinol / febuxostat second line. Both of these drugs inhibit...

Biochemistry NBME Exam Questions and Complete Solutions Updated Histones beads on a string (analbeads) -rich in arginine and lysine -heterochromatin is condensed -euchromatin is transcribed -cytosine and adenine are methylated in DNA transcription allowing for mismatch enzymes in PROKARYOTES -histone methylation inactivates transcription of DNA. acetylation activates it nucleotides pure as gold are purines (adenine and guanine) -2 rings pyrimidines are Cut The Pie -uracil...

Biochemistry NBME Exam Questions and Complete Solutions Updated Histones beads on a string (analbeads) -rich in arginine and lysine -heterochromatin is condensed -euchromatin is transcribed -cytosine and adenine are methylated in DNA transcription allowing for mismatch enzymes in PROKARYOTES -histone methylation inactivates transcription of DNA. acetylation activates it nucleotides pure as gold are purines (adenine and guanine) -2 rings pyrimidines are Cut The Pie -uracil...

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 Biochem - First Aid Exam Questions With Accurate Answers. Chromatin structure - answerDNA exists in condensed chromatin form in order to fit in nucleus Negatively charged DNA loops twice around positively charged histone octamer (2 sets of H2A, H2B, H3 and H4) to form nucleosome "bead" Octomer subunits consist primarily of lysine and arginine amino acids (positively charged). H1 ties nucleosome beads together in a string Heterochromatin - answerCondensed, transciptionally inactiv...

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 (...