WorksheetsHereditary metabolic diseases
Total questions: 20
Worksheet time: 10mins
Galactosemia has been revealed in a child. Concentration of glucose in the blood has not considerably changed. What enzyme deficiency caused this illness?
Phosphoglucomutase
Amylo-1,6-glucosidase
Galactose-1-phosphate uridyltransferase
Hexokinase
A child’s blood presents high content of galactose, glucose concentration is low. There are such presentations as cataract, mental deficiency, adipose degeneration of liver. What disease is it?
Lactase deficiency
Galactosemia
Diabetes mellitus
Fructosemia
Examination of cell culture got from a patient with lysosomal pathology revealed accumulation of great quantity of lipids in the lysosomes. What of the following diseases is this disturbance typical for?
Phenylketonuria
Wilson disease
Galactosemia
Tay-Sachs disease
A 6 year old child was delivered to a hospital. Examination revealed that the child couldn’t fix his eyes, didn’t keep his eyes on toys, eye ground had the cherry-red spot sign. Laboratory analyses showed that brain, liver and spleen had high rate of ganglioside glycometide. What congenital disease is the child ill with?
Turner’s syndrome
Tay-Sachs disease
Niemann-Pick disease
MacArdle disease
Albinos can’t stand sun impact – they don’t aquire sun-tan but get sunburns. Disturbed metabolism of what aminoacid underlies this phenomenon?
Glutamic acid
Tryptophan
Methionine
Phenilalanine
A 1,5 year old child was taken to the hospital. The examination revealed dementia, disorder of motor functions regulation, hypopigmentation of skin, high rate of phenylalanine in blood. What is the most probable diagnosis?
Phenylketonuria
Galactosemia
Down’s syndrome
Mucoviscidosis
A 2 year old child with mental and physical retardation has been delivered to a hospital. He presents with frequent vomiting after having meals. There is phenylpyruvic acid in urine. Which metabolism abnormality is the reason for this pathology?
Amino-acid metabolism
Lipid metabolism
Carbohydrate metabolism
Water-salt metabolism
Nappies of a newborn have dark spots that witness of formation of homogentisic acid. Metabolic imbalance of which substance is it connected with?
Thyrosine
Galactose
Methionine
Cholesterine
In case of alkaptonuria, homogentisic acid is excreted in urine in large amounts. The development of this disease is associated with a disorder of metabolism of the following amino acid:
Methionine
Tyrosine
Alanine
Asparagine
A patient has been diagnosed with alkaptonuria. This pathology is caused by deficiency of the following enzyme:
Glutamate dehydrogenase
Oxidase of homogentisic acid
Phenylalanine hydroxylase
Pyruvate dehydrogenase
A 1,5-year-old child presents with both mental and physical lag, decolorizing of skin and hair, decrease in catecholamine concentration in blood. When a few drops of 5% solution of trichloroacetic iron had been added to the child’s urine it turned olive green. Such alteration are typical for the following pathology of the amino acid metabolism:
Phenylketonuria
Alkaptonuria
Albinism
Xanthinuria
Examination of a 6 days old infant revealed phenyl pyruvate and phenyl acetate excess in his urine. What aminoacid metabolism is disturbed in the child’s organism?
Tryptophan
Phenylalanine
Histidine
Arginine
A 13-year-old patient complains of general weakness, dizziness, fatiguability. Mental retardation is also observed. Examination revealed high concentration of valine, isoleucine and leucine in blood and urine. The patient’s urine has a specific smell. What is the likely cause of such condition?
Addison’s disease
Maple syrup urine disease
Histidinemia
Alkaptonuria
In patients with glycogenolysis, that is von Gierke’s disease, the conversion of glucose-6-phosphate into glucose is inhibited, which is accompanied by the improper breakdown of glycogen in the liver. The cause of this condition is the following enzyme deficiency:
Glucose-6-phosphatase
Glycogen phosphorylase
Glucose-6-phosphate dehydrogenase
Phosphofructokinase
In humans, cystinuria is manifested by the presence of cystine kidney stones (in homozygotes) or an increased level of cystine in the urine (in heterozygotes). Cystinuria is a monogenic disease. What type of gene interaction takes place in this case?
Codominance
Complete dominance
Incomplete dominance
Epistasis
How inherited mucopolysaccharidosis?
autosomal dominant
autosomal recessive
Х linked recessive
X -linked dominant
Y-linked
What is characteristic of mucopolysaccharidosis :
the lack of synthesis of tyrosine kinase
reduced activity of hexosaminidase A in the body; deposition of ganglioside in brain cells, liver cells, spleen cells and other organs; destruction of axons in nerve cells
violation of the metabolism of acid glycosaminoglycans in the body leads to insufficiency of lysosomal enzymes
blocking of protein synthesis of fibrillin leads to increase extensibility of connective tissue
What are the typical features for patients with phenylketonuria?
convulsive syndrome, tendency to develop dermatitis, urine and sweat of patients have a characteristic odor (mousy odor), oligophrenia
tall, long arachnid fingers, chest deformation, flat feet, subluxation of the lens, aortic aneurysm
the decease manifests in the first months of life; muscular hypotonia, convulsion, characteristic symptom of "cherry bone" on the retina
Mongoloid face, tower type of skull, physical retardation
How inherited galactosemia?
autosomal dominant
autosomal recessive
Х linked recessive
X -linked dominant
Y-linked
What is characteristic of Tay-Sachs decease:
the lack of synthesis of tyrosine kinase
reduced activity of hexosaminidase A in the body; deposition of ganglioside in brain cells, liver cells, spleen cells and other organs; destruction of axons in nerve cells
violation of the metabolism of acid glycosaminoglycans in the body leads to insufficiency of lysosomal enzymes
decrease in hemoglobin HbA1 formation and increasing the amount of hemoglobin F
