Lesch nyhan syndrome - Study guides, Class notes & Summaries

M2 FINAL COACHING EXAM - Questions and Answers (Complete Solutions) Select the site of pyruvate formation during glycolysis A. Liver B. Muscles C. Heart D. Lungs Choose the organelle, found close to the endoplasmic reticulum, which receives and acts on proteins and membrane lipids to further modify them and then passes these on to other parts of the cell through budding vesicles A. Golgi apparatus B. Lysosomes C. Ribosomes D. Mitochondria Select the organelles that have digestive vesicles and ...

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...

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 SHELF Revised Questions and Correct Answers Graded A++ branched amino acids Val, leu, ile essential amino acids PVT TIM HALL -OH amino acids Tyr, Ser, Thr Maple syrup urine disease: deficiency of Alpha-keto acid dehydrogenase Lesch-Nyhan syndrome Deficiency in hypoxanthine-guanine phosphoribosyl transferase. Defect in purine salvage reactions. Orange sand urine, self-mutilation and mental retardation. PKU Phe hydroxylase deficiency. Need cofactor BH4; mental retardatio...

Adenosine deaminase (ADA) deficiency - AnswerAn immunodeficiency disorder and one type of SCIDs that is caused by an *inborn error in the metabolism of adenine*. The accumulation of adenine destroys both B and T lymphocytes. Increase in dATP is lymphotoxic Lesch-Nyhan syndrome - Answer*Defective purine salvage due to absent HGPRT*, which converts hypoxanthine to IMP and guanine to GMP. Results in *excess uric acid production and de novo purine synthesis*. X-linked recessive Findings...

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? - ***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...

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...

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...

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...