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

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
by

1 Answer

Answer :

Answers-5 MENTAL RETARDATION. Fragile X syndrome-commonest male cause. Hypoxia at birth, intaventricular haemorrhage, rhesus disease, Congenital infections - toxoplasmosis, CMV, rubella, herpes), hypoglycaemia, meningitis, hypothyroidism (cretinism, tuberous sclerosis, Down's, Tay-Sach's, Cornelia De Lange, Hartnup - biochemical, treatable with diet. -homocystinuria, phenylketonuria -maple syrup urine disease, tryptophanuria -galactosaemia
by
selected

Related questions

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

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

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

An important feature of maple syrup urine disease is (A) Patient can not be treated by dietary regulation (B) Without treatment death, of patient may occur by the end of second year of life (C) Blood levels of leucine, isoleucine and serine are increased (D) Excessive brain damage

Description : An important feature of maple syrup urine disease is (A) Patient can not be treated by dietary regulation (B) Without treatment death, of patient may occur by the end of second year of life (C) Blood levels of leucine, isoleucine and serine are increased (D) Excessive brain damage

Last Answer : Answer : D

Maple syrup urine disease becomes evident in extra uterine life by the end of (A) First week (B) Second week (C) Third week (D) Fourth week

Description : Maple syrup urine disease becomes evident in extra uterine life by the end of (A) First week (B) Second week (C) Third week (D) Fourth week

Last Answer : Answer : A

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 : 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

Last Answer : Answer : D

Increased urinary indole acetic acid is diagnostic of (A) Maple syrup urine disease (B) Hartnup disease (C) Homocystinuia (D) Phenylketonuria

Description : Increased urinary indole acetic acid is diagnostic of (A) Maple syrup urine disease (B) Hartnup disease (C) Homocystinuia (D) Phenylketonuria

Last Answer : Answer : B

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

In the genetic disorder of cystinuria, the patient excretes large quantities of cystine in their urine and its low solubility causes crystalline cystine to precipitate as stones in kidneys. The remedy involves ingesting Na HCO3. Reaction of this treatment is (A) NaHCO2 combines with cystine (B) NaHCO3 raises the pH above the isoelectric point of cystine (C) NaHCO3 prevents stone formation by hydrolysis of cystine to cysteine (D) None of these

Description : In the genetic disorder of cystinuria, the patient excretes large quantities of cystine in their urine and its low solubility causes crystalline cystine to precipitate as stones in kidneys. The remedy ... C) NaHCO3 prevents stone formation by hydrolysis of cystine to cysteine (D) None of these

Last Answer : Answer : C

Maple syrup urine disease?

Description : Maple syrup urine disease?

Last Answer : DefinitionMaple syrup urine disease (MSUD) is a metabolism disorder passed down through families in which the body cannot break down certain parts of proteins. Urine in persons with this condition ... . Even in the mildest form, repeated periods of physical stress can cause mental retardationand h

-child , urine odor like burned sugar: - Phenylketonuria - Maple syrup urine disease

Description : -child , urine odor like burned sugar: - Phenylketonuria - Maple syrup urine disease

Last Answer : Maple syrup urine disease _______________________________

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.

Maple syrup urine diseases is an inborn error of metabolism of (A) Sulphur-containing amino acids (B) Aromatic amino acids (C) Branched chain amino acids (D) Dicarboxylic amino acids

Description : Maple syrup urine diseases is an inborn error of metabolism of (A) Sulphur-containing amino acids (B) Aromatic amino acids (C) Branched chain amino acids (D) Dicarboxylic amino acids

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

Ochronosis is an important finding of (A) Tyrosinemia (B) Tyrosinosis (C) Alkaptonuria (D) Richner Hanhart syndrome FATS AND FATTY ACID METABOLISM 77

Description : Ochronosis is an important finding of (A) Tyrosinemia (B) Tyrosinosis (C) Alkaptonuria (D) Richner Hanhart syndrome FATS AND FATTY ACID METABOLISM 77

Last Answer : Answer : C

There can be intolerance with respect to the following sugar: (A) Glucose (B) Lactose (C) Maltose (D) Xylose

Description : There can be intolerance with respect to the following sugar: (A) Glucose (B) Lactose (C) Maltose (D) Xylose

Last Answer : Answer : B

Presence of RBC in urine is (a) alkaptonuria (b) urothiasis (c) hematuria (d) proteinuria.

Description : Presence of RBC in urine is (a) alkaptonuria (b) urothiasis (c) hematuria (d) proteinuria.

Last Answer : (c) hematuria

Niacin deficiency can occur in (A) Hartnup disease (B) Phenylketonuria (C) Alkaptonuria (D) None of these

Description : Niacin deficiency can occur in (A) Hartnup disease (B) Phenylketonuria (C) Alkaptonuria (D) None of these

Last Answer : Answer : A

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.

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

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

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

All of the following occur in orotic aciduria except (A) Increased synthesis of pyrimidine nucleotides (B) Increased excretion of orotic acid in urine (C) Decreased synthesis of cytidine triphosphate (D) Retardation of growth

Description : All of the following occur in orotic aciduria except (A) Increased synthesis of pyrimidine nucleotides (B) Increased excretion of orotic acid in urine (C) Decreased synthesis of cytidine triphosphate (D) Retardation of growth

Last Answer : Answer : A

UDP Glucuronic acid is required for the biosynthesis of (A) Chondroitin sulphates (B) Glycogen (C) Lactose (D) Starch

Description : UDP Glucuronic acid is required for the biosynthesis of (A) Chondroitin sulphates (B) Glycogen (C) Lactose (D) Starch

Last Answer : A

Can you develop lactose intolerance later in life?

Description : Can you develop lactose intolerance later in life?

Last Answer : answer:Yes, I used to drink a gallon of milk a week. Now if I tried that I would not be pleasant to be around. Surprisingly I can still eat some cheese and yogurt in moderation. Try Farmer’s cheese, it sometimes is less irritable to some lactose intolerant people.

Lactose Intolerance?

Description : Lactose Intolerance?

Last Answer : answer:I can't answer all of your questions, but I can answer some of them, based on nutrution and human physiology classes I've taken. LI can be linked to genetics, (for example full- ... . Basically you take the tablet right before eating, and it replaces the lactase your body was lacking.

What makes a person have lactose intolerance?

Description : What makes a person have lactose intolerance?

Last Answer : Because of deficiency of lactase enzyme in small intestine so that lactose present in milk cant digest . Cause diarrhea indigestion cramp in stomach abdominal pain etc.

How do you know that you are Lactose intolerance?

Description : How do you know that you are Lactose intolerance?

Last Answer : After consuming a milk based product, you will feel like having a diarrhea 20 to 30 minutes after you drink it. First you will experience a gurgling sound on your stomach, then it will be painful as ... when you are in the street for sure. This is very common so reduce the intake of milk product.

Lactose intolerance?

Description : Lactose intolerance?

Last Answer : DefinitionLactose intolerance is the inability to digest lactose (a type of sugar found in milk and other dairy products).Alternative NamesLactase deficiency; Milk intolerance; Disaccharidase deficiency; ... among northern and western Europeans.Lactose intolerance can begin at different times in l

What is the best treatment for lactose intolerance?

Description : What is the best treatment for lactose intolerance?

Last Answer : If there is no way that lactose can be omitted from your diet the only other solution is to pair your lactose intake with a lactose additives, which can be purchased at most drug stores.

Lactose Intolerance Symptoms?

Description : Lactose Intolerance Symptoms?

Last Answer : People who are lactose intolerant are not able to process lactose in the body. Lactose is a substance that is commonly found in milk products. Older adults and people of certain ... mentioned should consult with their doctor for further advice on dealing with and controlling lactose intolerance.

Are there natural suppliments to help with lactose intolerance?

Description : Are there natural suppliments to help with lactose intolerance?

Last Answer : There are no natural supplements that are proven to be safe to help with lactose intolerance. Humans are the only mammels that consume milk or dairy from other animal species. It is common for humans ... dairy or replace cow dairy with rice, soy, or almond dairy products that your body can tolerate.

What's the definition of Lactose intolerance?

Description : What's the definition of Lactose intolerance?

Last Answer : Lactose intolerance, the inability to digest the sugar found in milk, is widespread and affects up to 70% of the world's adult population.

What is the treatment for Lactose intolerance?

Description : What is the treatment for Lactose intolerance?

Last Answer : If there is no way that lactose can be omitted from your diet the only other solution is to pair your lactose intake with a lactose additives, which can be purchased at most drug stores.

How many americans have Lactose intolerance?

Description : How many americans have Lactose intolerance?

Last Answer : Adult lactose intolerance is the most common of all enzyme deficiencies, and it is estimated that 30-50 million Americans have this condition.

How to Deal with Lactose Intolerance ?

Description : How to Deal with Lactose Intolerance ?

Last Answer : How to Deal with Lactose Intolerance If you often feel sick after drinking a glass of milk or eating a bowl of ice cream, you might be lactose intolerant. It's a health condition where a person cannot ... Just remember these tips and you'll live a happy and normal life, while eating foods you like.

Which is the defective enzyme in von Gierkeís disease (glycogen storage disease type I)?

Description : Which is the defective enzyme in von Gierkeís disease (glycogen storage disease type I)? 

Last Answer : Glucose-6-phosphatase.

Cystinuria results from inability to (A) Metabolise cysteine (B) Convert cystine into cysteine (C) Incorporate cysteine into proteins (D) Reabsorb cystine in renal tubules

Description : Cystinuria results from inability to (A) Metabolise cysteine (B) Convert cystine into cysteine (C) Incorporate cysteine into proteins (D) Reabsorb cystine in renal tubules

Last Answer : Answer : D

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

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.

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.

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

Alkaptonuria occurs due to deficiency of the enzyme: (A) Maleylacetoacetate isomerase (B) Homogentisate oxidase (C) p-Hydroxyphenylpyruvate hydroxylase (D) Fumarylacetoacetate hydrolase

Description : Alkaptonuria occurs due to deficiency of the enzyme: (A) Maleylacetoacetate isomerase (B) Homogentisate oxidase (C) p-Hydroxyphenylpyruvate hydroxylase (D) Fumarylacetoacetate hydrolase

Last Answer : Answer : B