A 45-year-old male presents with severe pain in both knee joints. At the time of surgery, his cartilage is found to have a dark blue-black color. Further evaluation reveals that the patient’s urine has darkened rapidly with time. The most likely diagnosis for this abnormality is
An apathetic male infant in an underdeveloped country is found to have peripheral edema, a “moon” face, and an enlarged, fatty liver. Which one of the listed mechanisms is involved in the pathogenesis of this child’s abnormalities?
Decreased protein intake leads to decreased lipoproteins
Decreased caloric intake leads to hypoalbuminemia
Decreased carbohydrate intake leads to hypoglycemia
Decreased fluid intake leads to hypernatremia
Decreased fat absorption leads to hypovitaminosis
А 65 year-old man consults a doctor about strong pain in his great toes. He loves and often drinks beer. There is a suspicion on gout. Which of the followings substanses is necessary to identify in the blood for confirmation of a diagnosis?
A 78 year-old man consults a doctor with complaints of pain in small joints of feet and hands. The joints are enlarged with thickened nodes. Urates in the serum of his blood are revealed. A disorder in metabolism of which of the following substances underlines this disorder?
On examination of a 20-year old pregnant woman increased content of phenylalanine is revealed in her blood. Which of the following disorders is expected to be in her child?
Homogentisic acid is revealed in the urine of a 3-month old child. As a result of standing at air the urine becomes dark. Which of the following disorders is this finding characteristic for?
It is known that phenylketonuria occurs as a result of a mutation in the gene which encodes for metabolism of amino acid phenylalanine. Indicate the disorder of phenylalanine metabolism that underlines phenylketonuria.
phenylalanine tyrosine thyroxin
phenylalanine thyroxin noradrenalin
phenylalanine thyroxin alkapton
phenylalanine phenylpyruvat ketoacids
phenylalanine tyrosine melaline
A 2-month old boy has dark spots on his sclera and ears. His urine becomes dark while standing on air. In his blood and the urine homogentisic acid is found out. Which of the following disorders does the patient have?
On examination alkaptonuria is identified in a newborn. Which of the following enzymes hereditary deficiency does this disorder result from?
In a month after a surgical removal of a large segment of the small intestine blood protein content in the patient is 35 g/L. Which of the following disorders in blood proteins does he have?
A 6 –month old child develops mental and psychical retardation.His skin, hair and iris of eyes are pale.He has positive Felling’s test (with a 5% solution of trichloracetic iron). Which of the following inherited disorders does the patient have?