Lesch nyhan syndrome - Study guides, Class notes & Summaries

What is the biochemical problem in Lesch-Nyhan syndrome? (And, only if you got that right, what are the really cool symptoms of it?) - Defective purine catabolism, so buildup of purines. It's an Xlinked recessive disorder with mutated HGPRT gene (hypoxanthine-guanine phosphoribosyltransferase, if you want to impress people). What is the defect in Chronic Granulomatous disease? What is the pathophysiology? - NADPH Oxidase deficiency leads to the inability to kill intracellular organisms Wha...

USMLE Final Competency Certification Study Guide Exam Questions with Certified for Accuracy Answers 2024/2025 Most common cause of constrictive pericarditis - correct answer tuberculosis Soap bubble on x-ray - diagnosis? - correct answer giant cell tumor of bone Spike and dome on EM - diagnosis? - correct answer membranous glomerulonephritis What is a Spitz nevus? - correct answer benign juvenile melanoma Splinter hemorrhages in fingernails - diagnosis? - correct answer ...

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 - 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 - Answer-D An alternate form of a gene is called a(n) ________. a. Allele b. Exome c. Genome d. Chromosomes e. mutation - Answer-A The Central Dogma is best described as ______. a. DNA to Protein to RNA b. Protein ...

USMLE Step 1 - uWorld High Yield Notes 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? Wha...

USMLE Step 1 - uWorld High Yield Notes 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? What...

Lesch-Nyhan syndrome - type of deficiency - symptoms - ***HGPRT deficiency Gout, intellectual disability, aggressive behavior, hyperuricemia, dystonia Kartegener's syndrome - dynein arm defect in cilia - ***Situs inversus, chronic sinusitis, bronchiectasis, infertility, sperm immotile, fallopian tubes affected What's mutated in this individual? Osteogenesis imperfecta - collagen type 1 defect - ***Blue sclera mottled dentition brittle bones What is defective? Marfan Syndro...

what fibers innervate thyropharyngeus and cricopharyngeus of inferior pharyngeal constrictor muscles. correct answers motor fibers of vagus nerve defect in zenker diverticulum which antibiotics are synergistic with aminoglycosides correct answers penicillins monobactam unilateral flank pain, radiates to groin, hypoactive bowel sounds ? correct answers ureteral calculi where are most diverticula found correct answers sigmoid colon ( smallest diameter) embryonic germ layer of lin...

Alkaptonuria - correct answer Absence of homogentisate oxidase - arthritis - discolored sclerae and other areas (ear cartilage) - Dark urine - spinal disc degeneration and dense calcifications possible What is the cause of "bitter almond" breath? - correct answer Cyanide poisoning What does cyanide inhibit? - correct answer Cytocrhome oxidase ...

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...

USMLE STEP 1- First AidDiseases/Disorders/Deficiencies/Syndromes Exam 2023 (A+) Adenosine deaminase (ADA) deficiency - ANS-An 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 - ANS-*Defective purine salvage due to absent HGPRT*, which converts hypoxanthine to IMP and guanine to GMP. Results in *excess uric ...