Lesch nyhan syndrome - Study guides, Class notes & Summaries

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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 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...

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? 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...

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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 ...