4. The mother of a 4-month-old female baby attended in the well-baby clinic with the complaint of black staining of the diaper after few minutes of urination. The baby was born of a non-consanguineous marriage, healthy and breast fed. Mother noticed that stain first at the age of two and half months. The urine, when kept in a test tube for two hours, turned black. What is the reason of present symptom? What compound was revealed in increased concentration in laboratory examination of urine? For the answer: a) name compounds which impart dark color to the urine of patient, point out the disorder this symptom is observed in; b) write down the seheme of metabolie pathway in which named component is intermediary metabolite, specify enzymes and cofactors; c) specify the reaction in the scheme decreased rate of which causes the disorder; d) presume, what type of mutation can lead to this pathology.

Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
Chapter1: The Human Body: An Orientation
Section: Chapter Questions
Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...
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4. The mother of a 4-month-old female baby attended in the well-baby clinic with
the complaint of black staining of the diaper after few minutes of urination.
The baby was born of a non-consanguincous marriage, healthy and breast fed.
Mother noticed that stain first at the age of two and half months. The urine,
when kept in a test tube for two hours, turned black. What is the reason of
present symptom? What compound was revealed in increased concentration in
laboratory examination of urine? For the answer:
a) name compounds which impart dark color to the urine of patient, point out
the disorder this symptom is observed in;
b) write down the scheme of metabolic pathway in which named component is
intermediary metabolite, specify enzymes and cofactors;
c) specify the reaction in the scheme decreased rate of which causes the disorder;
d) presume, what type of mutation can lead to this pathology.
Transcribed Image Text:4. The mother of a 4-month-old female baby attended in the well-baby clinic with the complaint of black staining of the diaper after few minutes of urination. The baby was born of a non-consanguincous marriage, healthy and breast fed. Mother noticed that stain first at the age of two and half months. The urine, when kept in a test tube for two hours, turned black. What is the reason of present symptom? What compound was revealed in increased concentration in laboratory examination of urine? For the answer: a) name compounds which impart dark color to the urine of patient, point out the disorder this symptom is observed in; b) write down the scheme of metabolic pathway in which named component is intermediary metabolite, specify enzymes and cofactors; c) specify the reaction in the scheme decreased rate of which causes the disorder; d) presume, what type of mutation can lead to this pathology.
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