Phenylketonuria?

Phenylketonuria?
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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, incidence, and risk factorsPhenylketonuria (PKU) is inherited, which means it is passed down through families. Both parents must pass on the defective gene in order for a baby to have the condition. This is called an autosomal recessive trait.Babies with PKU are missing an enzyme called phenylalanine hydroxylase, which is needed to break down an essential amino acid called phenylalanine. The substance is found in foods that contain protein.Without the enzyme, levels of phenylalanine and two closely-related substances build up in the body. These substances are harmful to the central ner
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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.

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

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

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.

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 _______________________________