An important finding in Tay-sach’s disease is (A) Renal failure (B) Accumulation of gangliosides in brain and spleen (C) Cardiac failure (D) Anemia

An important finding in Tay-sach’s disease is (A) Renal failure (B) Accumulation of gangliosides in brain and spleen (C) Cardiac failure (D) Anemia
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An important finding in Refsum’s disease is (A) Accumulation of ceramide trihexoside in the kidney (B) Accumulation of phytanic acid in the blood and tissues (C) Accumulation of gangliosides in brain and spleen (D) Skin eruptions

Description : An important finding in Refsum’s disease is (A) Accumulation of ceramide trihexoside in the kidney (B) Accumulation of phytanic acid in the blood and tissues (C) Accumulation of gangliosides in brain and spleen (D) Skin eruptions

Last Answer : Answer : B

Tay Sach’s disease is because of (A) Accumulation of proteins (B) Accumulation of glycogen (C) Accumulation of lipids (D) Accumulation of vitamins

Description : Tay Sach’s disease is because of (A) Accumulation of proteins (B) Accumulation of glycogen (C) Accumulation of lipids (D) Accumulation of vitamins

Last Answer : (C) Accumulation of lipids

Ceramidase is deficient in (A) Fabry’s disease (B) Farber’s disease (C) Krabbe’s disease (D) Tay-Sachs disease

Description : Ceramidase is deficient in (A) Fabry’s disease (B) Farber’s disease (C) Krabbe’s disease (D) Tay-Sachs disease

Last Answer : Answer : B

α-Galactosidase enzyme is defective in (A) Tay-sach’s disease (B) Refsum’s disease (C) Sandhoff’s disease (D) Fabry’s disease

Description : α-Galactosidase enzyme is defective in (A) Tay-sach’s disease (B) Refsum’s disease (C) Sandhoff’s disease (D) Fabry’s disease

Last Answer : Answer : D

Inherited deficiency of enzyme cerebrosidase produces (A) Fabry’s disease (B) Niemann pick disease (C) Gaucher’s disease (D) Tay-sach’s disease

Description : Inherited deficiency of enzyme cerebrosidase produces (A) Fabry’s disease (B) Niemann pick disease (C) Gaucher’s disease (D) Tay-sach’s disease

Last Answer : Answer : C

Mental retardation occurs in (A) Tay-Sachs disease (B) Gaucher’s disease (C) Niemann-Pick disease (D) All of these

Description : Mental retardation occurs in (A) Tay-Sachs disease (B) Gaucher’s disease (C) Niemann-Pick disease (D) All of these

Last Answer : Answer : D

Hexosaminidase A is deficient in (A) Tay-Sachs disease (B) Gaucher’s disease (C) Niemann-Pick disease (D) Fabry’s disease

Description : Hexosaminidase A is deficient in (A) Tay-Sachs disease (B) Gaucher’s disease (C) Niemann-Pick disease (D) Fabry’s disease

Last Answer : Answer : A

Tay-Sachs disease results from inherited deficiency of (A) Arylsulphatase A (B) Hexosaminidase A (C) Sphingomyelinase (D) Ceramidase

Description : Tay-Sachs disease results from inherited deficiency of (A) Arylsulphatase A (B) Hexosaminidase A (C) Sphingomyelinase (D) Ceramidase

Last Answer : Answer : B

Inherited deficiency of β−glucosidase causes (A) Tay-Sachs disease (B) Metachromatic leukodystrophy (C) Gaucher’s disease (D) Multiple sclerosis

Description : Inherited deficiency of β−glucosidase causes (A) Tay-Sachs disease (B) Metachromatic leukodystrophy (C) Gaucher’s disease (D) Multiple sclerosis

Last Answer : Answer : C

What is the underlying cause of Tay-Sachs disease is?

Description : What is the underlying cause of Tay-Sachs disease is?

Last Answer : Tay-Sachs disease is a hereditary illness. The body does notmake a molecule that is required to break down fatty substances inthe body, called gangliosides. The gangliosides collect in thenervous tissue, resulting in damage to the brain and nerves.

Tay-Sachs disease?

Description : Tay-Sachs disease?

Last Answer : DefinitionTay-Sachs disease is a deadly disease of the nervous system passed down through families.Causes, incidence, and risk factorsTay-Sachs disease occurs when the body lacks hexosaminidase A, a protein that helps break ... to the child, the child is called a carrier. He or she won't be sick, b

An important finding of Fabry’s disease is (A) Skin rash (B) Exophthalmos (C) Hemolytic anemia (D) Mental retardation

Description : An important finding of Fabry’s disease is (A) Skin rash (B) Exophthalmos (C) Hemolytic anemia (D) Mental retardation

Last Answer : Answer : A

All of the following tissue are capable of using ketone bodies except (A) Brain (B) Renal cortex (C) R.B.C. (D) Cardiac muscle

Description : All of the following tissue are capable of using ketone bodies except (A) Brain (B) Renal cortex (C) R.B.C. (D) Cardiac muscle

Last Answer : Answer : C

Gangliosides are the glycolipids occurring in (A) Brain (B) Liver (C) Kidney (D) Muscle

Description : Gangliosides are the glycolipids occurring in (A) Brain (B) Liver (C) Kidney (D) Muscle

Last Answer : Answer : A

Gangliosides are complex glycosphingolipids found in (A) Liver (B) Brain (C) Kidney (D) Muscle

Description : Gangliosides are complex glycosphingolipids found in (A) Liver (B) Brain (C) Kidney (D) Muscle

Last Answer : Answer : B

An important finding in Neimann-Pick disease is (A) Leukopenia (B) Cardiac enlargement (C) Corneal opacity (D) Hepatosplenomegaly

Description : An important finding in Neimann-Pick disease is (A) Leukopenia (B) Cardiac enlargement (C) Corneal opacity (D) Hepatosplenomegaly

Last Answer : Answer : D

An important feature of Von-Gierke’s disease is (A) Muscle cramps (B) Cardiac failure (C) Hypoglycemia (D) Respiratory alkalosis

Description : An important feature of Von-Gierke’s disease is (A) Muscle cramps (B) Cardiac failure (C) Hypoglycemia (D) Respiratory alkalosis

Last Answer : Answer : C

Acute renal failure (ARF) may be caused by all of the following except (a) Acute tubular necrosis (ATN) due to drug therapy (e.g., aminoglycosides, contrast media) (b) Severe hypotension or circulatolry collapse (c) Decreased cardiac output, as from congestive heart failure (d) Hemolysis, myoglobinuria (e) Hyperkalemia

Description : Acute renal failure (ARF) may be caused by all of the following except (a) Acute tubular necrosis (ATN) due to drug therapy (e.g., aminoglycosides, contrast media) (b) Severe hypotension ... (c) Decreased cardiac output, as from congestive heart failure (d) Hemolysis, myoglobinuria (e) Hyperkalemia

Last Answer : Ans: E

The following is true of mannitol except: A. It inhibits solute reabsorption in the thick ascending limb of loop of Henle B. It is contraindicated in patients with increased intracranial tension C. It is contraindicated in acute left ventricular failure D. It is not used to treat cardiac or hepatic or renal edema

Description : The following is true of mannitol except: A. It inhibits solute reabsorption in the thick ascending limb of loop of Henle B. It is contraindicated in patients with increased intracranial tension C. It ... acute left ventricular failure D. It is not used to treat cardiac or hepatic or renal edema

Last Answer : B. It is contraindicated in patients with increased intracranial tension

Hypokalemia occurs in (A) Cushing’s syndrome (B) Addison’s disease (C) Renal failure (D) Advanced dehydration

Description : Hypokalemia occurs in (A) Cushing’s syndrome (B) Addison’s disease (C) Renal failure (D) Advanced dehydration

Last Answer : Answer : A

Serum potassium level decreases in (A) Familial periodic paralysis (B) Addison’s disease (C) Renal failure (D) All of these

Description : Serum potassium level decreases in (A) Familial periodic paralysis (B) Addison’s disease (C) Renal failure (D) All of these

Last Answer : Answer : A

Hyponatraemia occurs in the following condition: (A) Addison’s disease (B) Chronic renal failure (C) Severe diarrhoea (D) All of these

Description : Hyponatraemia occurs in the following condition: (A) Addison’s disease (B) Chronic renal failure (C) Severe diarrhoea (D) All of these

Last Answer : Answer : D

Character ist ic f ind ing in Gaucher ’s disease is (A) Night blindness (B) Renal failure (C) Hepatosplenomegaly (D) Deafness

Description : Character ist ic f ind ing in Gaucher ’s disease is (A) Night blindness (B) Renal failure (C) Hepatosplenomegaly (D) Deafness

Last Answer : Answer : C

Serum biochemistry of a 60 year old man revealed calcium of 1.98 mmol/l and phosphate of 0.55 mmol/l with an alkaline phosphatase of 450 IU/l.Which among the following mosts suits with the above serum biochemistry? 1) Osteoporosis 2) Osteomalacia 3) Pagets Disease 4) Secondary Hyperparathyroidism 5) Renal failure

Description : Serum biochemistry of a 60 year old man revealed calcium of 1.98 mmol/l and phosphate of 0.55 mmol/l with an alkaline phosphatase of 450 IU/l.Which among the following mosts suits ... biochemistry? 1) Osteoporosis 2) Osteomalacia 3) Pagets Disease 4) Secondary Hyperparathyroidism 5) Renal failure

Last Answer : Answers-2 Osteomalacia is associated with low calcium and phosphate with raised alkaline phosphatase. Serum biochemistry is normal in osteoporosis. Pagets disease is associated with normal ... renal failure when tertiary hyperparathyroidism sets in there is low calcium with raised phosphate.

An important feature of Zellweger ’s syndrome is (A) Hypoglycemia (B) Accumulation of phytanic acid in tissues (C) Skin eruptions (D) Accumulation of C26-C38 polyenoic acid in brain tissues

Description : An important feature of Zellweger ’s syndrome is (A) Hypoglycemia (B) Accumulation of phytanic acid in tissues (C) Skin eruptions (D) Accumulation of C26-C38 polyenoic acid in brain tissues

Last Answer : Answer : D

An important finding in glycinuria is (A) Excess excretion of oxalate in the urine (B) Deficiency of enzyme glycinase (C) Significantly increased serum glycine level (D) Defect in renal tubular reabsorption of glycine

Description : An important finding in glycinuria is (A) Excess excretion of oxalate in the urine (B) Deficiency of enzyme glycinase (C) Significantly increased serum glycine level (D) Defect in renal tubular reabsorption of glycine

Last Answer : Answer : D

An important cause of water intoxication is (A) Nephrogenic diabetes insipidus (B) Renal failure (C) Gastroenteritis (D) Fanconi syndrome

Description : An important cause of water intoxication is (A) Nephrogenic diabetes insipidus (B) Renal failure (C) Gastroenteritis (D) Fanconi syndrome

Last Answer : Answer : B

Lesch-Nyhan syndrome, the sex linked, recessive absence of HGPRTase, may lead to (A) Compulsive self destructive behaviour with elevated levels of urate in serum (B) Hypouricemia due to liver damage (C) Failure to thrive and megaloblastic anemia (D) Protein intolerance and hepatic encephalopathy

Description : Lesch-Nyhan syndrome, the sex linked, recessive absence of HGPRTase, may lead to (A) Compulsive self destructive behaviour with elevated levels of urate in serum (B) Hypouricemia due to liver damage (C) Failure to thrive and megaloblastic anemia (D) Protein intolerance and hepatic encephalopathy

Last Answer : Answer : A

Which of the following is not a phospholipids? (A) Lecithin (B) Plasmalogen (C) Lysolecithin (D) Gangliosides

Description : Which of the following is not a phospholipids? (A) Lecithin (B) Plasmalogen (C) Lysolecithin (D) Gangliosides

Last Answer : Answer : D

Which one of the following is not a phospholipid? (A) Lecithin (B) Plasmalogen (C) Lysolecithin (D) Gangliosides

Description : Which one of the following is not a phospholipid? (A) Lecithin (B) Plasmalogen (C) Lysolecithin (D) Gangliosides

Last Answer : Answer : D

Cerebronic acid is present in (A) Glycerophospholipids (B) Sphingophospholipids (C) Galactosyl ceramide (D) Gangliosides

Description : Cerebronic acid is present in (A) Glycerophospholipids (B) Sphingophospholipids (C) Galactosyl ceramide (D) Gangliosides

Last Answer : Answer : C

Gangliosides derived from glucosylceramide contain in addition one or more molecules of (A) Sialic acid (B) Glycerol (C) Diacylglycerol (D) Hyaluronic acid

Description : Gangliosides derived from glucosylceramide contain in addition one or more molecules of (A) Sialic acid (B) Glycerol (C) Diacylglycerol (D) Hyaluronic acid

Last Answer : Answer : A

Match the items given in column I with those in column II and select the correct option given below. Column I Column II A. Glycosuria (i) Accumulation of uric acid in joints B. Gout (ii) Mass of crystallised salts within the kidney C. Renal calculi (iii) Inflammation in glomeruli D. Glomerular (iv) Presence of glucose in nephritis urine A B C D (a) (iii) (ii) (iv) (i) (b) (i) (ii) (iii) (iv) (c) (ii) (iii) (i) (iv) (d) (iv) (i) (ii) (iii)

Description : Match the items given in column I with those in column II and select the correct option given below. Column I Column II A. Glycosuria (i) Accumulation of uric acid in joints B. Gout (ii) Mass of crystallised salts within the kidney ... (iii) (iv) (c) (ii) (iii) (i) (iv) (d) (iv) (i) (ii) (iii)

Last Answer : (d) (iv) (i) (ii) (iii)

Which of the following conditions is an indication for the use of calcitonin? (a) Chronic renal failure (b) Hypoparathyroidism (c) Intestinal osteodystrophy (d) Pager’s disease (e) Rickets

Description : Which of the following conditions is an indication for the use of calcitonin? (a) Chronic renal failure (b) Hypoparathyroidism (c) Intestinal osteodystrophy (d) Pager’s disease (e) Rickets

Last Answer : Ans: D

The following conditions give rise to red blood cells with increased mean cell volume: a. anaemia of chronic disease. b. pernicious anaemia. c. anaemia due to renal failure. d. haemolytic anaemi

Description : The following conditions give rise to red blood cells with increased mean cell volume: a. anaemia of chronic disease. b. pernicious anaemia. c. anaemia due to renal failure. d. haemolytic anaemi

Last Answer : pernicious anaemia.

Radiopaque lesions are seen in: A. Multiple myeloma B. Paget’s disease C. Hyperparathyroidism D. Chronic renal failure

Description : Radiopaque lesions are seen in: A. Multiple myeloma B. Paget’s disease C. Hyperparathyroidism D. Chronic renal failure

Last Answer : B. Paget’s disease

The hydrolysis of Glucose-6-phosphate is catalysed by a specific phosphatase which is found only in (A) Liver, intestines and kidneys (B) Brain, spleen and adrenals (C) Striated muscle (D) Plasma

Description : The hydrolysis of Glucose-6-phosphate is catalysed by a specific phosphatase which is found only in (A) Liver, intestines and kidneys (B) Brain, spleen and adrenals (C) Striated muscle (D) Plasma

Last Answer : A

Which of the following statement(s) is/are true concerning the relationship between cardiac function and effective blood volume? a. A pulmonary capillary wedge pressure of 5–10 rules out fluid overload as a cause of pulmonary edema b. A shift to the right in the Frank-Starling curve is associated with compromised cardiac function c. Dilutional anemia may contribute to tachycardia even though blood volume and filling pressures are normal d. The sole purpose of a pulmonary artery catheter is to measure pulmonary artery pressure and cardiac output

Description : Which of the following statement(s) is/are true concerning the relationship between cardiac function and effective blood volume? a. A pulmonary capillary wedge pressure of 5-10 rules out ... sole purpose of a pulmonary artery catheter is to measure pulmonary artery pressure and cardiac output

Last Answer : Answer: b, c Although physical findings are often adequate to establish a diagnosis and institute management of cardiac failure, direct measurement of filling pressures of the right heart ( ... blood volume is normal, filling pressures are normal, and total body extracellular fluid is excessive

Which of the following is most likely to result in cyanosis? C A. Anemia B. Polycythemia C. Left to right cardiac shunt D. None of these

Description : Which of the following is most likely to result in cyanosis? C A. Anemia B. Polycythemia C. Left to right cardiac shunt D. None of these

Last Answer : Left to right cardiac shunt

Sjogren’s syndrome is a chronic disease characterized by which of the following clinical feature: Options: 1) Esophageal dysmotility 2) Keratoconjunctivitis sicca 3) Widespread damage to small blood vessels 4) Libmann Sachs Endocardititis

Description : Sjogren’s syndrome is a chronic disease characterized by which of the following clinical feature: Options: 1) Esophageal dysmotility 2) Keratoconjunctivitis sicca 3) Widespread damage to small blood vessels 4) Libmann Sachs Endocardititis

Last Answer : Correct Answer: 2) Keratoconjunctivitis sicca

tRNA has (A) Clover leaf structure (B) anticodon arm (C) poly ‘A’ tay 3’ (D) Cap at 5’ end

Description : tRNA has (A) Clover leaf structure (B) anticodon arm (C) poly ‘A’ tay 3’ (D) Cap at 5’ end

Last Answer : Answer : A

Metabolic alkalosis can occur in (A) Severe diarrhoea (B) Renal failure (C) Recurrent vomiting (D) Excessive use of carbonic anhydrase inhibitors

Description : Metabolic alkalosis can occur in (A) Severe diarrhoea (B) Renal failure (C) Recurrent vomiting (D) Excessive use of carbonic anhydrase inhibitors

Last Answer : Answer : C

Deficiency of magnesium may occur with (A) Alcoholism (B) Diabetes mellitus (C) Hypothyroidism (D) Advanced renal failure

Description : Deficiency of magnesium may occur with (A) Alcoholism (B) Diabetes mellitus (C) Hypothyroidism (D) Advanced renal failure

Last Answer : Answer : A

Inborn errors of urea cycle can cause all the following except (A) Vomiting (B) Ataxia (C) Renal failure (D) Mental retardation

Description : Inborn errors of urea cycle can cause all the following except (A) Vomiting (B) Ataxia (C) Renal failure (D) Mental retardation

Last Answer : Answer : D

Serum sodium level rises in all of the following except (A) Renal failure (B) Prolonged steroid therapy (C) Aldosteronism (D) Dehydration

Description : Serum sodium level rises in all of the following except (A) Renal failure (B) Prolonged steroid therapy (C) Aldosteronism (D) Dehydration

Last Answer : Answer : A

Serum inorganic phosphorous decreases in all the following conditions except (A) Hyperparathyroidism (B) Intestinal malabsorption (C) Osteomalacia (D) Chronic renal failure

Description : Serum inorganic phosphorous decreases in all the following conditions except (A) Hyperparathyroidism (B) Intestinal malabsorption (C) Osteomalacia (D) Chronic renal failure

Last Answer : Answer : D

Serum inorganic phosphorous rises in all the following conditions except (A) Hypoparathyroidism (B) Hypervitaminosis D (C) Chronic renal failure (D) After a carbohydrate-rich meal MINERAL METABOLISM 197

Description : Serum inorganic phosphorous rises in all the following conditions except (A) Hypoparathyroidism (B) Hypervitaminosis D (C) Chronic renal failure (D) After a carbohydrate-rich meal MINERAL METABOLISM 197

Last Answer : Answer : D

The product of serum calcium concentration (mg/dl) and serum inorganic phosphorous concentration (mg/dl) is decreased in (A) Rickets (B) Hypoparathyroidism (C) Hyperparathyroidism (D) Renal failure

Description : The product of serum calcium concentration (mg/dl) and serum inorganic phosphorous concentration (mg/dl) is decreased in (A) Rickets (B) Hypoparathyroidism (C) Hyperparathyroidism (D) Renal failure

Last Answer : Answer : A

Non-protein nitrogenous substances in blood are raised in (A) Starvation (B) Liver damage (C) Renal failure (D) All of these

Description : Non-protein nitrogenous substances in blood are raised in (A) Starvation (B) Liver damage (C) Renal failure (D) All of these

Last Answer : Answer : B

Primary hyperparathyroidism may occur in association with the following conditions 1) Chronic renal failure 2) Vitamin D deficiency 3) Gastrinoma 4) Autoimmune polyendocrine syndrome 5) Sjogren's syndrome

Description : Primary hyperparathyroidism may occur in association with the following conditions 1) Chronic renal failure 2) Vitamin D deficiency 3) Gastrinoma 4) Autoimmune polyendocrine syndrome 5) Sjogren's syndrome

Last Answer : Answers-3 The association of primary hyperparathyroidism and a gastrinoma would suggest a diagnosis of multiple endocrine neoplasia type 1. CRF causes secondary or tertiary hyperparathyroidism, with vit D deficiency causing secondary hyperparathyroidism. Ther is no association with Sjogren's.