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تحميل الدليل التدريبي

أسئلة شائعة


 

 

King Saud University

College of Science

Department of Biochemistry

 

 

BCH 451 – Inborn Errors of Metabolism

 

Model exam

 

 

Name:_____________________________________ No.__________________

 

Serial Number:-----------------------------

 

TIME:     2 hrs.

 

CAT: ………………….../40

 

Final : …………………. /60

 

Total: ………………… ./100

 

Grade:___________

 

Marks

 

Section ِِA ……………………….. /15

Section B ……………………….. /10

Section C ……………………….. /20

Section D ………………….……. /5

Section E…………………………./10

 

                        Total: ………… /60

 

 


 

 

 

Section A - Marks 15

 


Answer the following questions as [T] and [F].

 

1.

A reduction in plasma calcium causes reduced parathyroid hormone secretion.

[      ]

 

2.

Serum parathyroid hormone levels are low in parathyroid carcinoma                                   

[      ]

 

3.

The thyroid gland secretes a hormone which regulates calcium metabolism

 

[      ]

 

4.

Glucagone is secreted in response to low blood glucose.

[      ]

 

5.

Somatic mutations can be transmitted from the parents to their children.

[      ]

 

6.

Most common cause of hypoglycaemia in infants is persistent hypoinsulinemia hypoglycaemia.

[      ]

 

7.

A crumpled paper like cytoplasm is seen in gaucher disease.

[      ]

 

 

8.

Purine- nucleoside phosphorylase deficiency causes dysfunction of T cells only.

[      ]

 

9.

Familial hypercholesterolemia is inherited as autosomal recessive disorder.

[      ]

 

10.

LDL are part of the endogenous system of lipid transport.

[      ]

 

11.

Xanthoma is a clinical presentation seen in hypercholesterolemia

[      ]

 

12.

The apoprotein which is needed to activate lipoprotein lipase is B100.

[      ]

 

13.

Gaucher cells are seen in sphingomyelinase deficiency.

           

[      ]

 

14.

X-linked recessive disorders occur at the higher frequency in females than males.

[      ]

 

15.

In galactosemia the high  level of galactitol in blood leads to cataract.

[      ]

 

  

Section B:  Select the ONE correct statement in the following questions;

 

 

Gout is due to

1-

[    ]

Inactive xanthine oxidase

   a-

[    ]

Inactive PRPP synthetase

   b-

[    ]

Superreactive PRPP synthetase

   c-

[    ]

Non of the above

   d-

 

 

All of the following statements about diabetes are true except:

 

2-

[    ]

It means hyperglucagonemia secondry to hypoinsulinemia

   a-

[    ]

Is a multifactorial disease

   b-

[    ]

Diabetic  retinopathy is due to inactive aldehyde reductase

   c-

[    ]

Has many complications

   d-

 

 

Eye and skin lesion is seen in

3-

[    ]

Phenylketonuria

   a-

[    ]

Tyrosinemia type II

   b-

[    ]

Alkaptonurea

   c-

[    ]

Galactosemia

   d-

 

 

The hallmark of the diagnosis of tyrosinemia type I is:

4-

[    ]

Succinyle acetone

   a-

[    ]

Acetoacetate

   b-

[    ]

Tyrosine

   c-

[    ]

All of the above

   d-

 

 

 

In Gaucher disease, the missing enzyme is:

5-

[    ]

Cerebrocide sulfatase

   a-

[    ]

Glucocerebrosidase

   b-

[    ]

Galactosidase

   c-

[    ]

Galactokinase

   d-

 

 

Urolithiasis

6-

[    ]

 Means uric acid stones only in urine.

   a-

[    ]

Occurs in adenine phosphoribosyle transferase defeciency

   b-

[    ]

Means kidney stones.

   c-

[    ]

Non of the above

   d-

 

 

Neurological dysfunction is seen in:

7-

[    ]

Lesch- Nyhan syndrome

   a-

[    ]

Gout

   b-

[    ]

Adenosine deaminase deficiency.

   c-

[    ]

a and b

   d-

 

 

All the following cause mental retardation EXCEPT:

 

8-

[    ]

PKU

   a-

[    ]

Galactosemia

   b-

[    ]

Tyrosinemia

   c-

[    ]

hyperlipidemia

   d-

 

 

Which of the following statements about hypercholesterolemia is correct?

 

9-

[    ]

Inhereted as autosomal dominant

   a-

[    ]

Is due to LDL receptor defect

   b-

[    ]

Patients never show xanthomas

   c-

[    ]

Homozygous develops heart disease at age of 50 but not before.

   d-

 

 

 

Which of the following diseases show immune dysfunctional of T and B cells.

10-

[    ]

HPRT defeciency

   a-

[    ]

APRT defeciency

   b-

[    ]

Adenosine deaminase defeciency

   c-

[    ]

All of the above

   d-

 

Section C: Answer the following as True (T) or Falase (F):

 

 

Ochronosis is seen in:

 

1

[    ]

Alkaptonurea

   a-

[    ]

Tyrosinemia

   b-

[    ]

PKU

   c-

[    ]

Galactosemia

   d-

 

 

 

Which of the following is related to urea cycle metabolic errors:

2-

[    ]

Argininosuccinemia

   a-

[    ]

citrulinemia

   b-

[    ]

Carbamoyl phosphatemia

   c-

[    ]

Hypoammonemia

   d-

  

 

 

In Pompe's disease

3-

[    ]

Patients are hypoglycemic.

   a-

[    ]

Glycogen is deposited intravascularly

   b-

[    ]

Patients have skeletal muscle problems.

   c-

[    ]

Debranching enzyme is absent.

   d-

 

 

Which of the following is not transported from the intestine in chylomicron?

4-

[    ]

Cholesterol

   a-

[    ]

Medium chain fatty acids

   b-

[    ]

Triacylglycerol

   c-

[    ]

phospholipids

   d-

 

 

 

Familial hypercholesterolemia results from defects in

5.

[    ]

Chylomicron assembly

   a-

[    ]

Cholesterol transport

   b-

[    ]

Impairment of receptor-dependent LDL clearance

   c-

[    ]

Hormone-sensitive lipase.

   d-

 

 

The exogenous pathway of cholesterol transport delivers cholesterol from

 

6-

[    ]

The  diet to the liver

   a-

[    ]

From the liver to peripheral tissues

   b-

[    ]

The capillaries to the liver as oxidized LDL.

   c-

[    ]

Tissues to the liver

   d-

 

 

The causes of hyperuricaemia include

7-

[    ]

renal disease

   a-

[    ]

decrease in purine synthesis

   b-

[    ]

deficiency in the activity of hypoxanthine guanine phosphoribosyl transferase (HGPRT)

   c-

[    ]

Deficiency of PRPP synthetase

   d-

 

 

The lack of active hypoxanthine-guanine phosphoribosyl transferase causes a human genetic disease known as

8-

[    ]

Alkaptonurea

   a-

[    ]

Lesch-nyahan syndrome

   b-

[    ]

T cells dysfunction

   c-

[    ]

Gout

   d-

  

 

A lipid that have a sphingosine backbone is:

9-

[    ]

Sphingomyelins

   a-

[    ]

Ceramides

   b-

[    ]

Gangliocides

   c-

[    ]

Phospholipids.

   d-

 

 

All of the following are characteristics of phenylketonuria .

10-

[    ]

excretion of phenylpyruvate

   a-

[    ]

deficiency of phenyl alanine hydroxylase.

   b-

[    ]

untreated patients suffer severe mental retardation

   c-

[    ]

air oxidation causes urine to turn dark on standing.

   d-

 

  

Section D: Complete the following with the suitable word:

 1- A complete deficiency of HPRT, is characterized by …………………………… and ………………. retardation. 

2- ………………………… Deficiency and Purine Nucleoside Phosphorylase Deficiency, both show…………………….. dysfunction.

 

3- Familial combined hyperlipidemia is characterized by high plasma level of……………………… and……………………..

 

4- Citrullinemia is due to deficiency of ………………………. While ……………………….is due to arginase deficiency.

 

5- The treatment of urea cycle disorders consists of restricted balancing protein intake in order that the body receive the…………………  amino acids responsible for cell growth but not so much protein that excessive toxic ………………….. is formed.

 

 

Section E: Write short notes on the following:

 

A- LDL clearance in normal, homozygous and heterozygous hypercholesterolemic patients. (Draw a figure to show your answer).

 

B- Inborn errors of glutathione metabolism ( Draw the γ-glutamyle cycle).

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