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

An important finding of Fabry’s disease is (A) Skin rash (B) Exophthalmos (C) Hemolytic anemia (D) Mental retardation
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In which of the following is mental retardation an expected finding? 1) Alkaptonuria 2) Cystinuria 3) Glycogen storage disease 4) Lactose intolerance 5) Maple syrup urine disease

Description : In which of the following is mental retardation an expected finding? 1) Alkaptonuria 2) Cystinuria 3) Glycogen storage disease 4) Lactose intolerance 5) Maple syrup urine disease

Last Answer : Answers-5 MENTAL RETARDATION. Fragile X syndrome-commonest male cause. Hypoxia at birth, intaventricular haemorrhage, rhesus disease, Congenital infections - toxoplasmosis, CMV, rubella ... with diet. -homocystinuria, phenylketonuria -maple syrup urine disease, tryptophanuria -galactosaemia

An important finding in Hyperammonemia type II is (A) Increased serum gluatmine level (B) Enlarged liver (C) Mental retardation (D) Increased carbamoyl phosphate synthetase level

Description : An important finding in Hyperammonemia type II is (A) Increased serum gluatmine level (B) Enlarged liver (C) Mental retardation (D) Increased carbamoyl phosphate synthetase level

Last Answer : Answer : C

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 : 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

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

Which of the following is a recognised feature of abetalipoproteinaemia? 1) a high serum cholesterol 2) palmar xanthomas 3) advanced atherosclerotic vascular disease 4) abnormal red blood cell morphology 5) severe mental retardation

Description : Which of the following is a recognised feature of abetalipoproteinaemia? 1) a high serum cholesterol 2) palmar xanthomas 3) advanced atherosclerotic vascular disease 4) abnormal red blood cell morphology 5) severe mental retardation

Last Answer : Answers-4 Acanthocytes are seen in abetalipoproteinaemia. Retinitis pigmentosa is seen in abetalipoproteinaemia. Mental retardation is not present but motor abnormalities and neurodegenerative are seen.

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) Autoimmune hemolytic anemia Autoimmune hemolytic anemia is an acquired anemia. c) Cold agglutinin disease Cold agglutinin disease is an acquired anemia. d) Hypersplenism Hypersplenism results in an acquired hemolytic anemia.

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.

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

Description : 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

Last Answer : Answer : B

Acute hemolytic anemia in person’s sensitive to the Fava beans is due to the deficiency of the enzyme: (A) Pyruvate dehydrogenase (B) G-6-PD (C) Aconitase (D) Transketolase

Description : Acute hemolytic anemia in person’s sensitive to the Fava beans is due to the deficiency of the enzyme: (A) Pyruvate dehydrogenase (B) G-6-PD (C) Aconitase (D) Transketolase

Last Answer : Answer : B

Hemolytic anemia is caused by the deficiency of certain enzymes of the pentose phosphate pathway, the principal enzyme involved is (A) Glucose-6-phosphate dehydrogenase (B) Aldolase (C) Fructose 1, 6-bisphosphatase (D) Phosphohexose isomerase

Description : Hemolytic anemia is caused by the deficiency of certain enzymes of the pentose phosphate pathway, the principal enzyme involved is (A) Glucose-6-phosphate dehydrogenase (B) Aldolase (C) Fructose 1, 6-bisphosphatase (D) Phosphohexose isomerase

Last Answer : Answer : A

Folate deficiency causes (A) Microcytic anemia (B) Hemolytic anemia (C) Iron deficiency anemia (D) Megaloblastic anemia

Description : Folate deficiency causes (A) Microcytic anemia (B) Hemolytic anemia (C) Iron deficiency anemia (D) Megaloblastic anemia

Last Answer : Answer : D

The presence of bilirubin in the urine without urobilinogen suggests (A) Obstructive jaundice (B) Hemolytic jaundice (C) Pernicious anemia (D) Damage to the hepatic parenchyma

Description : The presence of bilirubin in the urine without urobilinogen suggests (A) Obstructive jaundice (B) Hemolytic jaundice (C) Pernicious anemia (D) Damage to the hepatic parenchyma

Last Answer : Answer : A

Immediate direct Vanden Bergh reaction indicates (A) Hemolytic jaundice (B) Hepatic jaundice (C) Obstructive jaundice (D) Megalobastic anemia

Description : Immediate direct Vanden Bergh reaction indicates (A) Hemolytic jaundice (B) Hepatic jaundice (C) Obstructive jaundice (D) Megalobastic anemia

Last Answer : Answer : B

The pH of gastric juice become low in (A) Hemolytic anemia (B) Pernicious anemia (C) Both (A) and (B) (D) None of these

Description : The pH of gastric juice become low in (A) Hemolytic anemia (B) Pernicious anemia (C) Both (A) and (B) (D) None of these

Last Answer : Answer : B

Which one of the following would be expected in pyruvate kinase deficiency? (A) Increased levels of lactate in the R.B.C (B) Hemolytic anemia (C) Decreased ratio of ADP to ATP in R.B.C (D) Increased phosphorylation of Glucose to Glucose-6-phosphate

Description : Which one of the following would be expected in pyruvate kinase deficiency? (A) Increased levels of lactate in the R.B.C (B) Hemolytic anemia (C) Decreased ratio of ADP to ATP in R.B.C (D) Increased phosphorylation of Glucose to Glucose-6-phosphate

Last Answer : B

A pregnant female delivers a baby who suffers from stunted growth, mental retardation, low intelligence quotient, and abnormal skin. This is the resul

Description : A pregnant female delivers a baby who suffers from stunted growth, mental retardation, low intelligence quotient, and abnormal skin. This is the resul

Last Answer : A pregnant female delivers a baby who suffers from stunted growth, mental retardation, low intelligence ... distalis D. Deficiency of idodine in diet.

A pregnant female delivers a baby who suffers from stunted growth, mental retardation, low intelligence quotient and abnormal skin. This is the result of (a) cancer of the thyroid gland (b) oversecretion of pars distalis (c) deficiency of iodine in diet (d) low secretion of growth hormone

Description : A pregnant female delivers a baby who suffers from stunted growth, mental retardation, low intelligence quotient and abnormal skin. This is the result of (a) cancer of the thyroid gland (b) oversecretion of pars distalis (c) deficiency of iodine in diet (d) low secretion of growth hormone

Last Answer : (c) deficiency of iodine in diet

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

Inherited deficiency of purine nucleoside phosphorylase causes (A) Dwarfism (B) Mental retardation (C) Immunodeficiency (D) Gout

Description : Inherited deficiency of purine nucleoside phosphorylase causes (A) Dwarfism (B) Mental retardation (C) Immunodeficiency (D) Gout

Last Answer : Answer : C

Inherited deficiency of adenosine deaminase causes (A) Hyperuricaemia and gout (B) Mental retardation (C) Immunodeficiency (D) Dwarfism

Description : Inherited deficiency of adenosine deaminase causes (A) Hyperuricaemia and gout (B) Mental retardation (C) Immunodeficiency (D) Dwarfism

Last Answer : Answer : C

Mental retardation can occur in (A) Cretinism (B) Juvenile myxoedema (C) Myxoedema (D) Juvenile thyrotoxicosis

Description : Mental retardation can occur in (A) Cretinism (B) Juvenile myxoedema (C) Myxoedema (D) Juvenile thyrotoxicosis

Last Answer : Answer : A

All of the following statements about generalized gangliosidosis are true except (A) It results from deficiency of GM1-βGangliosidase (B) Breakdown of GM1 ganglioside is impaired (C) GM2 ganglioside accumulates in liver and elsewhere (D) It leads to mental retardation

Description : All of the following statements about generalized gangliosidosis are true except (A) It results from deficiency of GM1-βGangliosidase (B) Breakdown of GM1 ganglioside is impaired (C) GM2 ganglioside accumulates in liver and elsewhere (D) It leads to mental retardation

Last Answer : Answer : C

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 : 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

Last Answer : Answer : C

Clinical symptom in urea cycle disorder is (A) Mental retardation (B) Drowsiness (C) Diarrhoea (D) Oedema

Description : Clinical symptom in urea cycle disorder is (A) Mental retardation (B) Drowsiness (C) Diarrhoea (D) Oedema

Last Answer : Answer : A

Marasmus differs from Kwashiorkor in the which of these following respect (A) Mental retardation occurs in kwashiorkor but not in marasmus (B) Growth is retarded in kwashiorkor but not in marasmus (C) Muscle wasting occurs in marasmus but not kwashiorkor (D) Subcutaneous fat disappears in marasmus but not in kwashiorkor

Description : Marasmus differs from Kwashiorkor in the which of these following respect (A) Mental retardation occurs in kwashiorkor but not in marasmus (B) Growth is retarded in kwashiorkor but not in marasmus ... in marasmus but not kwashiorkor (D) Subcutaneous fat disappears in marasmus but not in kwashiorkor

Last Answer : Answer : D

Clinical features of Kwashiorkor include all of the following except (A) Mental retardation (B) Muscle wasting (C) Oedema (D) Anaemia

Description : Clinical features of Kwashiorkor include all of the following except (A) Mental retardation (B) Muscle wasting (C) Oedema (D) Anaemia

Last Answer : Answer : A

Congenital galactosaemia can lead to (A) Mental retardation (B) Premature cataract (C) Death (D) All of the above

Description : Congenital galactosaemia can lead to (A) Mental retardation (B) Premature cataract (C) Death (D) All of the above

Last Answer : D

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

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.

Hemolytic anemia?

Description : Hemolytic anemia?

Last Answer : DefinitionHemolytic anemiais a condition in which there are not enough red blood cells in the blood, due to the premature destruction of red blood cells. There are a number of specific types of hemolytic ... cells. The defect may be in the red blood cell itself (intrinsic factors), or outside the

Immune hemolytic anemia?

Description : Immune hemolytic anemia?

Last Answer : DefinitionImmune hemolytic anemia is a condition in which there is a reduced blood cell count due to the premature destruction of red blood cells by the immune system.Alternative NamesAnemia - immune ... to certain infectionsIf the cause of antibody formation is a disease or medication, it is refe

Erythroblastosis fetalis and neonatal hemolytic anemia are caused by a maternal immune response to which fetal blood group antigen: A A. Rh B. P C. MN D. None of these

Description : Erythroblastosis fetalis and neonatal hemolytic anemia are caused by a maternal immune response to which fetal blood group antigen: A A. Rh B. P C. MN D. None of these

Last Answer : Rh

Folate deficiency causes (A) Microcytic anemia (B) Hemolytic anemia (C) Iron deficiency anemia (D) Megaloblastic anemia

Description : Folate deficiency causes (A) Microcytic anemia (B) Hemolytic anemia (C) Iron deficiency anemia (D) Megaloblastic anemia

Last Answer : (D) Megaloblastic anemia

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

The enzyme ceramidase is deficient in (A) Farber’s disease (B) Fabry’s disease (C) Sandhoff’s disease(D) Refsum’s disease

Description : The enzyme ceramidase is deficient in (A) Farber’s disease (B) Fabry’s disease (C) Sandhoff’s disease(D) Refsum’s disease

Last Answer : Answer : A

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

Fabry’s disease is due to the deficiency of the enzyme: (A) Ceramide trihexosidase (B) Galactocerebrosidase (C) Phytanic acid oxidase (D) Sphingomyelinase

Description : Fabry’s disease is due to the deficiency of the enzyme: (A) Ceramide trihexosidase (B) Galactocerebrosidase (C) Phytanic acid oxidase (D) Sphingomyelinase

Last Answer : Answer : A

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

The concentration of sphingomyelins are increased in (A) Gaucher’s disease (B) Fabry’s disease (C) Fabrile disease (D) Niemann-Pick disease

Description : The concentration of sphingomyelins are increased in (A) Gaucher’s disease (B) Fabry’s disease (C) Fabrile disease (D) Niemann-Pick disease

Last Answer : Answer : B

The enzyme deficient in Fabry’s disease is (A) α-Galactosidase (B) β-Galactosidase (C) α-Glucosidase (D) β-Glucosidase

Description : The enzyme deficient in Fabry’s disease is (A) α-Galactosidase (B) β-Galactosidase (C) α-Glucosidase (D) β-Glucosidase

Last Answer : Answer : A

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

β -Galactosidase is deficient in (A) Fabry’s disease (B) Krabbe’s disease (C) Gaucher’s disease (D) Metachromatic leukodystrophy

Description : β -Galactosidase is deficient in (A) Fabry’s disease (B) Krabbe’s disease (C) Gaucher’s disease (D) Metachromatic leukodystrophy

Last Answer : Answer : B

Protein deficiency disease is known as (A) Cushing’s disease (B) Fabry’s disease (C) Parkinson’s disease (D) Kwashiorkor and marasmus

Description : Protein deficiency disease is known as (A) Cushing’s disease (B) Fabry’s disease (C) Parkinson’s disease (D) Kwashiorkor and marasmus

Last Answer : Answer : D

Each of the following statements concerning hookworm infection is correct EXCEPT: D A. Hookworm infection is caused by Necator americanus. B. Hookworm infection can cause anemia. C. Hookworm infection is acquired by humans when filariform larvae penetrate the skin. D. Hookworm infection can be diagnosed by finding the trophozoite in the stool

Description : Each of the following statements concerning hookworm infection is correct EXCEPT: D A. Hookworm infection is caused by Necator americanus. B. Hookworm infection can cause anemia. C. Hookworm infection is ... the skin. D. Hookworm infection can be diagnosed by finding the trophozoite in the stool

Last Answer : Hookworm infection can be diagnosed by finding the trophozoite in the stool

The nurse notes that the patient demonstrates generalized pallor and recognizes that this finding may be indicative of a) anemia. In the light-skinned individual, generalized pallor is a manifestation of anemia. In brown- and black-skinned individuals, anemia is demonstrated as a dull skin appearance.

Description : The nurse notes that the patient demonstrates generalized pallor and recognizes that this finding may be indicative of a) anemia. In the light-skinned individual, generalized pallor is a ... . d) local arterial insufficiency. Local arterial insufficiency is characterized by marked localized pallor.

Last Answer : a) anemia. In the light-skinned individual, generalized pallor is a manifestation of anemia. In brown- and black-skinned individuals, anemia is demonstrated as a dull skin appearance.

The commonest cause of unilateral exophthalmos is: a. Thyroid eye disease b. Lacrimal gland tumour c. Orbital cellulitis d. Cavernous sinus thrombosis

Description : The commonest cause of unilateral exophthalmos is: a. Thyroid eye disease b. Lacrimal gland tumour c. Orbital cellulitis d. Cavernous sinus thrombosis

Last Answer : ANSWER: A

Clinical features of hyperthyroidism include (A) Goitre, heat intolerance, weight loss and tachycardia (B) Goitre, tremors, tachycardia and cold intolerance (C) Exophthalmos, goiter, tachycardia and loss of appetite (D) Exophthalmos, goiter, tremors and obesity

Description : Clinical features of hyperthyroidism include (A) Goitre, heat intolerance, weight loss and tachycardia (B) Goitre, tremors, tachycardia and cold intolerance (C) Exophthalmos, goiter, tachycardia and loss of appetite (D) Exophthalmos, goiter, tremors and obesity

Last Answer : Answer : A

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

Stunned growth of child during pregnancy mental retardation, low intelligence quiotient is due to

Description : Stunned growth of child during pregnancy mental retardation, low intelligence quiotient is due to

Last Answer : Stunned growth of child during pregnancy mental retardation, low intelligence quiotient is due to

Mental retardation in man, associated with sex chromosomal abnormality is usually due to (a) moderate increase in Y complement (b) large increase in Y complement (c) reduction in X complement (d) increase in X complement.

Description : Mental retardation in man, associated with sex chromosomal abnormality is usually due to (a) moderate increase in Y complement (b) large increase in Y complement (c) reduction in X complement (d) increase in X complement.

Last Answer : (d) increase in X complement.

Increased serum ornithine carabamoyl transferase activity is diagnostic of (A) Myocardial infarction (B) Hemolytic jaundice (C) Bone disease (D) Acute viral hepatitis

Description : Increased serum ornithine carabamoyl transferase activity is diagnostic of (A) Myocardial infarction (B) Hemolytic jaundice (C) Bone disease (D) Acute viral hepatitis

Last Answer : Answer : D

A complete absence of fecal urobilinogen is strongly suggestive of (A) Obstruction of bile duct (B) Hemolytic jaundice (C) Intrahepatic cholestasis (D) Malignant obstructive disease

Description : A complete absence of fecal urobilinogen is strongly suggestive of (A) Obstruction of bile duct (B) Hemolytic jaundice (C) Intrahepatic cholestasis (D) Malignant obstructive disease

Last Answer : Answer : D