Description : A deficiency of copper effects the formation of normal collagen by reducing the activity of which of the following enzyme? (A) Prolyl hydroxylase (B) Lysyl oxidase (C) Lysyl hydroxylase (D) Glucosyl transferase
Last Answer : Answer : B
Description : Abnormal collagen structure is seen in all of the following except (A) I-cell disease (B) Osteogenesis imperfecta (C) Menke’s disease (D) Ehlers-Danlos sydrome
Description : Albinism is due to deficiency of the enzyme: (A) Phenylalanine hydroxylase (B) Tyrosinase (C) p-Hydroxyphenylpyruvic acid oxidase (D) Tyrosine dehydrogenase
Last Answer : Answer : C
Description : Alkaptonuria occurs due to deficiency of the enzyme: (A) Maleylacetoacetate isomerase (B) Homogentisate oxidase (C) p-Hydroxyphenylpyruvate hydroxylase (D) Fumarylacetoacetate hydrolase
Description : Maple syrup urine disease results from absence or serve deficiency of (A) Homogentisate oxidase (B) Phenylalanine hydroxylase (C) Branched chain amino acid transaminase (D) None of these
Last Answer : Answer : D
Description : The deficiency of copper decreases the activity of the enzyme: (A) Lysine oxidase (B) Lysine hydroxylase (C) Tyrosine oxidase (D) Proline hydroxylase
Last Answer : Answer : A
Description : Which of the following is/are not a substrate or cofactor for prolyl hydroxylase? A. Alpha-ketoglutarate. B. Ascorbate. C. Biotin. D. Oxygen. E. Copper.
Last Answer : Answer: CE DISCUSSION: Prolyl hydroxylase is one of the rate-limiting enzymes in collagen synthesis. Substrates and cofactors such as iron, alpha-ketoglutarate, ascorbate, and oxygen are ... broken down. Thus, ascorbate deficiency (scurvy) and hypoxia have similar effects on collagen synthesis
Description : A specific BRCA1 cancer-predisposing gene mutation seems to occur more frequently among women of which descent? a) Ashkanazi Jewish Expression of the BRCA1 gene is an example of ... of treatment for tuberculosis) are at significantly increased risk for developing isoniazid-induced hepatitis.
Last Answer : a) Ashkanazi Jewish Expression of the BRCA1 gene is an example of inheritance in the development of breast cancer.
Description : Selenium is a constituent of the enzyme: (A) Glutathione peroxidase (B) Homogentisate oxidase (C) Tyrosine hydroxylase (D) Phenylalanin hydroxylase
Description : Vitamin K is involved in posttranslational modification of the blood clotting factors by acting as cofactor for the enzyme: (A) Carboxylase (B) Decarboxylase (C) Hydroxylase (D) Oxidase
Description : In adrenogenital syndrome due to total absence of 21-hydroxylase in adrenal cortex, there is (A) Deficient secretion of glucocorticoids (B) Deficient secretion of mineralcorticoids (C) Excessive secretion of androgens (D) All of these
Description : Richner-Hanhart syndrome is due to defect in (A) Tyrosinase (B) Phenylalanine hydroxylase (C) Hepatic tyrosine transaminase (D) Fumarylacetoacetate hydrolase
Description : Which of the following statements concerning abnormalities of the haemoglobin molecule is true? 1) Alpha thalassaemia is due to a deficiency of beta-chain production 2) HbS is caused by a ... is an adverse prognostic sign 5) oliguneoclitide probes may assist in the diagnosis of haemoglobinopathies
Last Answer : Answers-2 Alpha Thalassaemia is due to abnormalities of the alpha chain. Persistence of HbF has survival advnatages in severely affected subjects. C-alpha 16, beta 11. e-Hb electrophoresis(Dr Shu Ho)
Description : Neonatal tyrosinemia is due to deficiency of the enzyme: (A) p-Hydroxyphenylpyruvate hydroxylase (B) Fumarylacetoacetate hydrolase (C) Phenylalanine hydroxylase (D) Tyrosine dehydrogenase
Description : An inborn error, maple syrup urine disease is due to deficiency of the enzyme: (A) Isovaleryl-CoAhydrogenase (B) Phenylalnine hydroxylase (C) Adenosyl transferase (D) α-Ketoacid decarboxylase
Description : Essential fatty acid deficiency may complicate total parenteral nutrition (TPN). Which of the following statements are true? A. Essential fatty acid deficiency may be prevented by the ... , dry, scaly skin associated with a maculopapular rash indicates essential fatty acid deficiency.
Last Answer : Answer: BD DISCUSSION: Biochemical evidence of essential fatty acid deficiency may occur as early as 7 to 10 days following initiation of fat-free parenteral nutrition. The decrease in ... essential to the diagnosis of essential fatty acid deficiency, but this plasma abnormality is often present
Description : Lesch-Nyhan syndrome, the sex linked recessive disorder is due to the lack of the enzyme: (A) Hypoxanthine-guanine phosphoribosyl transferse (B) Xanthine oxidase (C) Adenine phosphoribosyl transferase (D) Adenosine deaminase
Description : Vitamin K is involved in posttranslational modification of the blood clotting factors by acting as cofactor for the enzyme (A) Carboxylase (B) Decarboxylase (C) Hydroxylase (D) Oxidase
Last Answer : (A) Carboxylase
Description : Which of the following suggests a diagnosis of Hurler's Syndrome rather than Hunter's Syndrome? 1) X-linked inheritance 2) Mental retardation 3) Skeletal abnormalities 4) Cloudy cornea 5) Cardiomyopathy
Last Answer : Answers-4 Hunter's Syndrome (MPS-2) is of X-linked inheritance. The cornea are clear. The skeletal involvement tends to be mild with no gibbous present, though scoliosis is ... and gibbous deformation of the spine is characteristic. There is the characteristic coarse facies with hepatosplenomegaly.
Description : Trials for gene therapy in human beings were first carried out, with considerable success, in a genetic disease called (A) Cystic fibrosis (B) Thalassemia (C) Adenosine deaminase deficiency (D) Lesch-Nyhan syndrome
Description : An autosomal recessive disorder, xanthinuria is due to deficiency of the enzymes: (A) Adenosine deaminase (B) Xanthine oxidase (C) HGPRTase (D) Transaminase
Description : Hereditary coproporphyria is caused due to deficiency of (A) Protoporphyrinogen oxidase (B) ALA synthase (C) ALA dehydratase (D) Coproporphyrinogen oxidase
Description : Acute intermittent porphyria (paraoxymal porphyria) is caused due to deficiency of (A) Uroporphyrinogen I synthase (B) ALA synthase (C) Coproporphyrinogen oxidase (D) Uroporphyrinogen decarboxylase
Description : Refsum’s disease is due to deficiency of the enzyme: (A) Pytantate-α-oxidase (B) Glucocerebrosidase (C) Galactocerebrosidase (D) Ceramide trihexosidase
Description : Fabry’s disease is due to the deficiency of the enzyme: (A) Ceramide trihexosidase (B) Galactocerebrosidase (C) Phytanic acid oxidase (D) Sphingomyelinase
Description : A protein rich in hydroxyproline is (A) Prolamin (B) Procollagen (C) Collagen (D) Proinsulin
Description : Which of the following adverse drug reactions is due to a specific genetic abnormality: A. Tetracycline induced sunburn like skin lesions B. Quinidine induced thrombocytopenia C. Metoclopramide induced muscle dystonia D. Primaquine induced massive haemolysis
Last Answer : D. Primaquine induced massive haemolysis
Description : Lack of Glucocorticoids and mineral corticoids might be consequence of which of the following defects in the adrenal cortex? (A) Androstenadione deficiency (B) Estrone deficiency (C) 17 α-OH progesterone deficiency (D) C- α-Hydroxylase deficiency
Description : The defect in adrenal cortex responsible for lack of glucocorticoids and mineralcorticoids is (A) Androstenedione deficiency (B) 17 α -OH progesterone deficiency (C) C-21 hydroxylase deficiency (D) Testosterone deficiency HORMONE METABOLISM 209
Description : All the following are true about phenylketonuria except (A) Deficiency of phenylalanine hydroxylase (B) Mental retardation (C) Increased urinary excretion of p-hydroxyphenyl pyruvic acid (D) Decrease serotonin formation
Description : The semialdehydes are formed under the action of enzymes characterised as (A) Aldolases (B) Peptidyl lysyl oxidases (C) Collagenases (D) Elastases
Description : .In human beings 45 chromosomes/single X/XO abnormality causes (a) Down’s syndrome (b) Kinefelter’s syndrome (c) Turner’s syndrome (d) Edward’s syndrome
Last Answer : (c) Turner’s syndrome
Description : .Which one of the following conditions in humans is correctly matched with its chromosomal abnormality/linkage? (a) Erythroblastosis fetalis - X-linked (b) Down’s syndrome - 44 autosomes + XO (c) Klinefelter’s syndrome - 44 autosomes + XXY (d) Colour blindness - Y-linked
Last Answer : (c) Klinefelter’s syndrome - 44 autosomes + XXY
Description : Folding of newly synthesized proteins is accelerated by (A) Protein disulphide isomerase (B) Prolyl cis-trans isomerase (C) Chaperonins (D) All of these
Description : In children, this skin disease is characterized by the production of thin-walled blisters oozing a yellowish fluid and forming yellowish- brown flakes. a. Toxic shock syndrome b. Scalded skin syndrome c. Erysipelas d. Impetigo
Last Answer : d. Impetigo
Description : All the following statements about albinism are correct except (A) Tyrosine hydroxylase (tyrosinase) is absent or deficient in melanocytes (B) Skin is hypopigmented (C) It results in mental retardation (D) Eyes are hypopigmented
Description : Hypouricaemia can occur in (A) Xanthine oxidase deficiency (B) Psoriasis (C) Leukaemia (D) None of these
Description : Enzymic deficiency in β-aminoisobutyric aciduria is (A) Adenosine deaminase (B) Xanthine oxidase (C) Orotidylate decarboxylase (D) Transaminase
Description : The probable cause of porphyria cutanea tarda is deficiency of (A) Uroporphyrinogen oxidase (B) Coproporphyrinogen oxidase (C) Protoporphyrinogen oxidase (D) Uroporphyrinogen I synthase MINERAL METABOLISM 185
Description : Of the following hemolytic anemias, which is categorized as inherited? a) Sickle cell anemia Glucose 6-phosphate dehydrogenase deficiency is an inherited abnormality resulting in hemolytic anemia. b ... is an acquired anemia. d) Hypersplenism Hypersplenism results in an acquired hemolytic anemia.
Last Answer : a) Sickle cell anemia Glucose 6-phosphate dehydrogenase deficiency is an inherited abnormality resulting in hemolytic anemia.
Description : A patient of megaloblastic anaemia was treated with oral folic acid 5 mg daily. After 2 weeks he reported back with cognitive deficit, sensory disturbance, depressed knee jerk, while ... therapy has unmasked pyridoxine deficiency D. Patient has folate reductase abnormality in the nervous system
Last Answer : D. Patient has folate reductase abnormality in the nervous system
Description : Which of the following statements best describes the usual course of rheumatoid arthritis? (a) It is an acute exacerbation of joint pain treated with short-term anti-inflammatory therapy (b) It is ... characterized by a marked loss of calcium from the bones and a resultant thinning of the bones
Last Answer : Ans: D
Description : Menke’s disease is due to an abnormality in the metabolism of (A) Iron (B) Manganese (C) Magnesium (D) Copper
Description : Which of the following is the most important risk factor for development of Chronic Obstructive Pulmonary Disease? a) Cigarette smoking Pipe, cigar and other types of tobacco smoking are also risk factors. b) ... is a risk factor for development of COPD, but it is not the most important risk factor.
Last Answer : a) Cigarette smoking Pipe, cigar and other types of tobacco smoking are also risk factors.
Description : Which one of the following statements concerning glucose-6-phosphate dehydrogenase deficiency is correct? (A) Young R.B.Cs, particularly reticulocytes, contain the highest enzyme activity cells show less enzyme ... PD gene (D) G-6-PD deficiency is precipitated by ingestion of drugs such as aspirin
Description : Mc Ardle’s syndrome is characterized by the absence of (A) Liver phosphorylase (B) Muscle phosphorylase (C) Branching enzyme (D) Debranching enzyme
Description : Tyrosinosis is due to defect in the enzyme: (A) Fumarylacetoacetate hydrolase (B) p-Hydroxyphenylpyruvate hydroxylase (C) Tyrosine transaminase (D) Tyrosine hydroxylase
Description : A 47-year-old patient undergoing a complicated laparotomy for bowel obstruction develops a postoperative enterocutaneous fistula. Which of the following statement(s) is/are true concerning parenteral ... use of TPN better prepares the patient for surgery if surgical intervention proves necessary
Last Answer : Answer: a, b, d Patients with gastrointestinal-cutaneous fistulas represent the classical indication for TPN. In such patients, oral intake of food almost invariably results in increased ... treated more aggressively surgically after a defined period of nutritional support (unless closure occurs)
Description : One manifestation of vitamin A deficiency is (A) Painful joints (B) Night blindness (C) Loss of hair (D) Thickening of long bones