Tricorrhexis nodosa is a characteristic finding of (A) Argininosuccinic aciduria (B) Citrullinemia (C) Phenylketonuria (D) Hyperargininemia

Tricorrhexis nodosa is a characteristic finding of (A) Argininosuccinic aciduria (B) Citrullinemia (C) Phenylketonuria (D) Hyperargininemia
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Absence of the enzyme argininosuccinate synthetase causes (A) Argininosuccinic aciduria (B) Hyperargininemia (C) Tricorrhexis nodosa (D) Citrullinemia

Description : Absence of the enzyme argininosuccinate synthetase causes (A) Argininosuccinic aciduria (B) Hyperargininemia (C) Tricorrhexis nodosa (D) Citrullinemia

Last Answer : Answer : A

Elevated blood argininosuccinate level is found in (A) Hyperargininemia (B) Argininosuccinic aciduria (C) Citrullinemia (D) Tyrosinosis

Description : Elevated blood argininosuccinate level is found in (A) Hyperargininemia (B) Argininosuccinic aciduria (C) Citrullinemia (D) Tyrosinosis

Last Answer : Answer : A

Hyperargininemia, a defect in urea synthesis develops due to deficiency of the enzyme: (A) Ornithine transcarbamoylase (B) Argininosuccinase (C) Arginase (D) Argininosuccinate synthetase ENZYMES 157

Description : Hyperargininemia, a defect in urea synthesis develops due to deficiency of the enzyme: (A) Ornithine transcarbamoylase (B) Argininosuccinase (C) Arginase (D) Argininosuccinate synthetase ENZYMES 157

Last Answer : Answer : B

The following enzyme of urea cycle is present in cytosol: (A) Argininosuccinic acid synthetase (B) Argininosuccinase (C) Arginase (D) All of these

Description : The following enzyme of urea cycle is present in cytosol: (A) Argininosuccinic acid synthetase (B) Argininosuccinase (C) Arginase (D) All of these

Last Answer : 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

Orotic aciduria can be controlled by (A) Oral administration of orotic acid (B) Decreasing the dietary intake of orotic acid (C) Decreasing the dietary intake of pyrimidines (D) Oral administration of uridine

Description : Orotic aciduria can be controlled by (A) Oral administration of orotic acid (B) Decreasing the dietary intake of orotic acid (C) Decreasing the dietary intake of pyrimidines (D) Oral administration of uridine

Last Answer : Answer : D

Enzymic deficiency in β-aminoisobutyric aciduria is (A) Adenosine deaminase (B) Xanthine oxidase (C) Orotidylate decarboxylase (D) Transaminase

Description : Enzymic deficiency in β-aminoisobutyric aciduria is (A) Adenosine deaminase (B) Xanthine oxidase (C) Orotidylate decarboxylase (D) Transaminase

Last Answer : Answer : D

Orotic aciduria type II reflects the deficiency of the enzyme: (A) Orotate phosphoribosyl transferase (B) Orotidylate decarboxylase (C) Dihydroorotase (D) Dihydroorotate dehydrogenase

Description : Orotic aciduria type II reflects the deficiency of the enzyme: (A) Orotate phosphoribosyl transferase (B) Orotidylate decarboxylase (C) Dihydroorotase (D) Dihydroorotate dehydrogenase

Last Answer : Answer : B

Orotic aciduria type I reflects the deficiency of enzymes: (A) Orotate phosphoribosyl transferase and orotidylate decarboxylase (B) Dihydroorotate dehydrogenase (C) Dihydroorotase (D) Carbamoyl phosphate synthetase

Description : Orotic aciduria type I reflects the deficiency of enzymes: (A) Orotate phosphoribosyl transferase and orotidylate decarboxylase (B) Dihydroorotate dehydrogenase (C) Dihydroorotase (D) Carbamoyl phosphate synthetase

Last Answer : Answer : A

Methyl malonic aciduria is seen in a deficiency of (A) Vitamin B6 (B) Folic acid (C) Thiamine (D) Vitamin B12

Description : Methyl malonic aciduria is seen in a deficiency of (A) Vitamin B6 (B) Folic acid (C) Thiamine (D) Vitamin B12

Last Answer : Answer : D

Methyl malonic aciduria is seen in a deficiency of (A) Vitamin B6 (B) Folic acid (C) Thiamine (D) Vitamin B12

Description : Methyl malonic aciduria is seen in a deficiency of (A) Vitamin B6 (B) Folic acid (C) Thiamine (D) Vitamin B12

Last Answer : Answer : D

Methyl malonic aciduria is seen in the deficiency of (A) Vitamin B6 (B) Folic acid (C) Thiamine (D) Vitamin B12

Description : Methyl malonic aciduria is seen in the deficiency of (A) Vitamin B6 (B) Folic acid (C) Thiamine (D) Vitamin B12

Last Answer : Answer : D

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

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

Amount of phenylacetic acid excreted in the urine in phenylketonuria is (A) 100–200 mg/dL (B) 200–280 mg/dL (C) 290–550 mg/dL (D) 600–750 mg/dL

Description : Amount of phenylacetic acid excreted in the urine in phenylketonuria is (A) 100–200 mg/dL (B) 200–280 mg/dL (C) 290–550 mg/dL (D) 600–750 mg/dL

Last Answer : Answer : C

Absence of phenylalanine hydroxylase causes (A) Neonatal tyrosinemia (B) Phenylketonuria (C) Primary hyperoxaluria (D) Albinism

Description : Absence of phenylalanine hydroxylase causes (A) Neonatal tyrosinemia (B) Phenylketonuria (C) Primary hyperoxaluria (D) Albinism

Last Answer : Answer : D

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

All the following statements about phenylketonuria are correct except (A) Phenylalanine cannot be converted into tyrosine (B) Urinary excretion of phenylpyruvate and phenyllactate is increased (C) It can be controlled by giving a lowphenylalanine diet (D) It leads to decreased synthesis of thyroid hormones, catecholamines and melanin

Description : All the following statements about phenylketonuria are correct except (A) Phenylalanine cannot be converted into tyrosine (B) Urinary excretion of phenylpyruvate and phenyllactate is increased (C) It ... diet (D) It leads to decreased synthesis of thyroid hormones, catecholamines and melanin

Last Answer : Answer : D

Which of the following has a known association with phenylketonuria? 1) Presentation in the second year of life with absence seizures. 2) The association of red hair and brown eyes. 3) Normal development. 4) Musty odour. 5) Response of some patients to piridoxine.

Description : Which of the following has a known association with phenylketonuria? 1) Presentation in the second year of life with absence seizures. 2) The association of red hair and brown eyes. 3) Normal development. 4) Musty odour. 5) Response of some patients to piridoxine.

Last Answer : Answers-4 Phenylketonuria is a quarter as common as congenital hypothyroidism, with an incidence of 1:10,000 live births. It is due either to phenylalanine hydroxylase deficiency or problems ... Co-factor defects are treated with a diet low in phenylalanine and high in neurotransmitter precursors.

The characteristic urinary finding in porphyria cutanea tarda is (A) Increased quantity of porphobilinogen (B) Increased quantity of red cell protoporphyrin (C) Increased quantity of uroporphyrin (D) Increased quantity of δ-ALA

Description : The characteristic urinary finding in porphyria cutanea tarda is (A) Increased quantity of porphobilinogen (B) Increased quantity of red cell protoporphyrin (C) Increased quantity of uroporphyrin (D) Increased quantity of δ-ALA

Last Answer : Answer : C

The characteristic urinary finding in acute intermittent porphyria is (A) Increased quantity of uroporphyrin (B) Increased quantity of coproporphyrin I (C) Increased quantity of coproporphyrin III (D) Massive quantities of porphobilinogen

Description : The characteristic urinary finding in acute intermittent porphyria is (A) Increased quantity of uroporphyrin (B) Increased quantity of coproporphyrin I (C) Increased quantity of coproporphyrin III (D) Massive quantities of porphobilinogen

Last Answer : Answer : D

Phenylketonuria?

Description : Phenylketonuria?

Last Answer : DefinitionPhenylketonuria (PKU) is a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine.Alternative NamesPKU; Neonatal phenylketonuriaCauses, ... related substances build up in the body. These substances are harmful to the central ner

Why do you think a baby is not tested for phenylketonuria immediately after it is born?

Description : Why do you think a baby is not tested for phenylketonuria immediately after it is born?

Last Answer : A test for phenylketonuria (PKU) is commonly done in a lot of countries. It's included in the baby's newborn screening panel. About the only reason for not testing for PKU is lack of resources of those providing care in the country, community or at the location of the baby's birth.

Consider the following human diseases: 1. Anaemia 2. Haemophilia 3. Leukemia 4. Phenylketonuria Which of the above diseases are hereditary in nature? (a) 1, 2 and 3 (b) 1 and 4 (c) 2 and 3 (d) 2 and 4

Description : Consider the following human diseases: 1. Anaemia 2. Haemophilia 3. Leukemia 4. Phenylketonuria Which of the above diseases are hereditary in nature? (a) 1, 2 and 3 (b) 1 and 4 (c) 2 and 3 (d) 2 and 4

Last Answer : Ans:(d)

Which one is a hereditary disease? (a) Cataract (b) Leprosy (c) Blindness (d) Phenylketonuria

Description : Which one is a hereditary disease? (a) Cataract (b) Leprosy (c) Blindness (d) Phenylketonuria

Last Answer : (d) Phenylketonuria

Study the pedigree chart given below. What does it show? (a) Inheritance of a condition like phenylketonuria as an autosomal recessive trait. (b) The pedigree chart is wrong as this is not possible. (c) Inheritance of a recessive sex-linked disease like haemophilia. (d) Inheritance of a sex-linked inborn error of metabolism like phenylketonuria

Description : Study the pedigree chart given below. What does it show? (a) Inheritance of a condition like phenylketonuria as an autosomal recessive trait. (b) The pedigree chart is wrong as this is ... disease like haemophilia. (d) Inheritance of a sex-linked inborn error of metabolism like phenylketonuria

Last Answer : (a) Inheritance of a condition like phenylketonuria as an autosomal recessive trait.

.Represented here is the inheritance pattern of a certain type of trait in humans. Which one of the following conditions could be an example of this pattern? (a) Phenylketonuria (b) Sickle cell anaemia (c) Haemophilia (d) Thalassemia

Description : .Represented here is the inheritance pattern of a certain type of trait in humans. Which one of the following conditions could be an example of this pattern? (a) Phenylketonuria (b) Sickle cell anaemia (c) Haemophilia (d) Thalassemia

Last Answer : (c) Haemophilia

Pick out the correct statements. (1) Haemophilia is a sex-linked recessive disease. (2) Down’s syndrome is due to aneuploidy. (3) Phenylketonuria is an autosomal recessive gene disorder. (4) Sickle cell anaemia is an X-linked recessive gene disorder. (a) (1), (3) and (4) are correct. (b) (1), (2) and (3) are correct. (c) (1) and (4) are correct. (d) (2) and (4) are correct.

Description : Pick out the correct statements. (1) Haemophilia is a sex-linked recessive disease. (2) Down's syndrome is due to aneuploidy. (3) Phenylketonuria is an autosomal recessive gene disorder. (4) Sickle cell anaemia is an X- ... are correct. (c) (1) and (4) are correct. (d) (2) and (4) are correct.

Last Answer : (b) (1), (2) and (3) are correct.

Select the correct match. (a) Haemophilia – Y linked (b) Phenylketonuria – Autosomal dominant trait(c) Sickle cell anaemia – Autosomal recessive trait,chromosome -11 (d) Thalassemia – X linked

Description : Select the correct match. (a) Haemophilia – Y linked (b) Phenylketonuria – Autosomal dominant trait (c) Sickle cell anaemia – Autosomal recessive trait,chromosome -11 (d) Thalassemia – X linked

Last Answer : (c) Sickle cell anaemia – Autosomal recessive trait,chromosome -11

A polygenic inheritance in human beings is (a) skin colour (b) phenylketonuria (c) colour blindness (d) sickle cell anaemia

Description : A polygenic inheritance in human beings is (a) skin colour (b) phenylketonuria (c) colour blindness (d) sickle cell anaemia

Last Answer : (a) skin colour

In human beings, multiple genes are involved in the inheritance of (a) sickle-cell anaemia (b) skin colour (c) colour blindness (d) phenylketonuria.

Description : In human beings, multiple genes are involved in the inheritance of (a) sickle-cell anaemia (b) skin colour (c) colour blindness (d) phenylketonuria.

Last Answer : ) skin colour

Multiple alleles control inheritance of (a) phenylketonuria (b) colour blindness (c) sickle cell anaemia (d) blood groups.

Description : Multiple alleles control inheritance of (a) phenylketonuria (b) colour blindness (c) sickle cell anaemia (d) blood groups.

Last Answer : (d) blood groups.

-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 _______________________________

What is NOT CHARACTERISTIC in finding a carcinoma of the mouth: A. Elevation B. Fixation C. Invasion D. Verrucoid appearance E. Pain

Description : What is NOT CHARACTERISTIC in finding a carcinoma of the mouth: A. Elevation B. Fixation C. Invasion D. Verrucoid appearance E. Pain

Last Answer : E. Pain

Which of the following is characteristic of an MIS? (A) Provides guidance in identifying problems, finding and evaluating alternative solutions, and selecting or comparing alternatives. (B) Draws on diverse yet predictable data resources to aggregate and summarize data. (C) High volume, data capture focus. (D) Has as its goal the efficiency of data movement and processing and interfacing different TPS.

Description : Which of the following is characteristic of an MIS? (A) Provides guidance in identifying problems, finding and evaluating alternative solutions, and selecting or comparing alternatives. (B) Draws on ... Has as its goal the efficiency of data movement and processing and interfacing different TPS. 

Last Answer : (B) Draws on diverse yet predictable data resources to aggregate and summarize data.

Important finding of secondary dehydration is (A) Intracellular oedema (B) Cellular dehydration (C) Thirst (D) Muscle cramps

Description : Important finding of secondary dehydration is (A) Intracellular oedema (B) Cellular dehydration (C) Thirst (D) Muscle cramps

Last Answer : Answer : A

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

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

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

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

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 finding in Histidinemia is (A) Impairment of conversion of α-Glutamate to α-ketoglutarate (B) Speech defect (C) Decreased urinary histidine level (D) Patients can not be treated by diet

Description : An important finding in Histidinemia is (A) Impairment of conversion of α-Glutamate to α-ketoglutarate (B) Speech defect (C) Decreased urinary histidine level (D) Patients can not be treated by diet

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 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

An 16-year-old man presents with polyuria and polydipsia. Which of the following may confirm the diagnosis of diabetes mellitus? 1) A random plasma glucose of >7.5 mmol/L 2) A finding of 3+ ketonuria 3) An HbA1c of 7.0% 4) A fasting plasma glucose of 7.5 mmol/L 5) An abnormal glucose tolerance test

Description : An 16-year-old man presents with polyuria and polydipsia. Which of the following may confirm the diagnosis of diabetes mellitus? 1) A random plasma glucose of >7.5 mmol/L 2) A finding of 3+ ketonuria 3) An HbA1c of 7.0% 4) A fasting plasma glucose of 7.5 mmol/L 5) An abnormal glucose tolerance test

Last Answer : Answers-4 The diagnosis is usually relatively easy to confirm in a symptomatic subject. A random glucose of >11.1 mmol/L or a fasting glucose of >7.0 mmol/L would be regarded as ... haemoglobin (HbA1c) is also highly suggestive but not diagnostic. A glucose tolerance test is rarely needed.

Low uptake of 123I on the thyroid uptake scan would be an expected finding in: 1) A solitary toxic nodule 2) A multi-nodular toxic goitre 3) Amiodarone induced thyrotoxicosis type 1 4) DeQuervain's thyroiditis 5) Graves' thyrotoxicosis

Description : Low uptake of 123I on the thyroid uptake scan would be an expected finding in: 1) A solitary toxic nodule 2) A multi-nodular toxic goitre 3) Amiodarone induced thyrotoxicosis type 1 4) DeQuervain's thyroiditis 5) Graves' thyrotoxicosis

Last Answer : Answers-4 DeQuervain's thyroiditis is classically associated with low or absent 123I (the 131 radioactive isotope of iodine) uptake. The others will have high or normal uptake. In particular type ... may be distinguished from the thyroiditis of type 2 by the normal or high uptake scan.

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