Human Heredity: Principles and Issues (MindTap Course List)
11th Edition
ISBN: 9781305251052
Author: Michael Cummings
Publisher: Cengage Learning
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Chapter 10.4, Problem 2GR
Summary Introduction
To explain: the other compounds that might come up in the urine of PKU patients and the reason for their appearance.
Introduction: Phenylketonuria (PKU) is a genetic disorder that is inherited from one generation into the next. PKU is caused because of the mutation in the gene that codes for the synthesis of an enzyme required for
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Chapter 10 Solutions
Human Heredity: Principles and Issues (MindTap Course List)
Ch. 10.4 - Prob. 1GRCh. 10.4 - Prob. 2GRCh. 10.7 - Prob. 1EGCh. 10.7 - Prob. 2EGCh. 10 - A couple was referred for genetic counseling...Ch. 10 - A couple was referred for genetic counseling...Ch. 10 - A couple was referred for genetic counseling...Ch. 10 - Many individuals with metabolic diseases are...Ch. 10 - Prob. 2QPCh. 10 - Enzymes have all the following characteristics...
Ch. 10 - Questions 4 through 6 refer to the following...Ch. 10 - Questions 4 through 6 refer to the following...Ch. 10 - Prob. 6QPCh. 10 - Prob. 7QPCh. 10 - Prob. 8QPCh. 10 - a. Compounds A, B, C, and D are known to be...Ch. 10 - b. Compounds A, B, C, and D are known to be...Ch. 10 - a. If an individual who is homozygous for the...Ch. 10 - Prob. 12QPCh. 10 - Suppose that in the formation of phenylalanine...Ch. 10 - If phenylalanine was not an essential amino acid,...Ch. 10 - Phenylketonuria and alkaptonuria are both...Ch. 10 - The normal enzyme required for converting sugars...Ch. 10 - Knowing that individuals who are homozygous for...Ch. 10 - Prob. 18QPCh. 10 - A person was found to have very low levels of...Ch. 10 - If an extra nucleotide is inserted in the first...Ch. 10 - Transcriptional regulators are proteins that bind...Ch. 10 - Prob. 22QPCh. 10 - Prob. 23QP
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- In a different instance of (d) two intants suspected to have a defi- ciency of the PDH complex because of severe lactic acidosis, tissue biop- sies could not be taken to measure URINARY EXCRETION OF PYRUVIC AND a-KETOGLUTARIC AcıDS Pyruvic Acid (umol/mg of creatinine) a-Ketoglutaric Acid (μmol/mg of creatinine) Age Special Diet or Drugs Patient G. M. enzyme activities. Instead it was no- ticed that there were high concentra- tions of organic acids in the urine. Typical results are tabulated in the ta- ble on the right. Identify the enzyme defect and explain why it presents this metabolic pattern. What other meta- bolic breakdown products likely were also detected especially following a high protein diet but are not listed? Name the defective enzyme. 5 wk 2.26 3.57 7½ wk 2.10 3.39 11 wk 1.35 4.63 12 wk After 18-hr fast 1.87 0.44 High-protein, low-carbohy- drate diet 15 wk 1.62 5.38 Patient D. M. 1 day 13 days 24 days 0.87 0.44 Thiamine 0.45 3.44 0.33 2.47 4 wk 0.53 1.23 6 wk Thiamine…arrow_forward(a) Identify the two reactions that allow the kidney to produce NH4+. (b) Which gluconeogenic precursor is thereby generated? Describe thepathway by which it can be converted to glucose.arrow_forwardWhy is glucose detectable in the urine of diabetics? What mechanism is failing in the kidneys and how is it failing?arrow_forward
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