بسم الله الرحمن الرحيم
نموذج من الإمتحان النهائي لمادة حيود الأيض
Please mark the correct statements with (T) and the incorrect one with (X):
1- Hypoammonemia caused by the defect of all urea cycle enzymes.
2-The diploid organism contains two copies of every gene, excepting
those carried on the sex chromosomes.
3- G6PD deficiency is a sex-linked affecting males and being carried by
4- In diabetic ketosis, liver produces large amounts of ketone bodies,
which lead to decrease in pH then impairs tissue function such as
central nervous system.
5- For an autosomal recessive trait to be expressed, both copies of a gene
pair must be present in a mutant form.
6- Homogentisate is abnormal intermediate in the degradation of
phenylalanine and tyrosine amino acids.
7- A person who is homozygous for aa has inherited the a allele from his
great-grandmother then transmitted through one parent.
8- When 2,4-Dinitrophenylhydrazone react with α-KA the result will be
9- The component activity in replication that reduces the number of
mis- incorporated bases known as postreplication repair system.
10-Phenylketonuria symptoms including the decrease in brain weight,
myelination of their nerves is defective and their reflexes are
11-When the transferase is not active in the lens of the eye then the
presence of aldose Reductase causes the accumulating galactose to
be reduced to galactitol.
12-Porphyrin biosynthesis is taking place in liver and phagocytes and
either site might be the disorder site.
13-The homologue is referred to each chromosome is derived from a
different parent which is known as homozygous.
14-Tyrosinemia symptoms are absence of pigmentation, scoliosis and
15-Type 2 DM is a homogeneous syndrome resulting from defects of
both insulin secretion and action.
16-hypolipidemia phenotypes result from defects in either lipoprotein
synthesis, metabolism, or uptake by tissues.
17-The possible cause of hyperammonemia is that elevated levels of
glutamate formed from NH4+ and glutamine.
18-Recessive mutation is known in which both alleles must be mutant.
19-Carnitine deficiency can affect the cardiac muscle and result in poor
cardiac contraction known as cardiomyopathy.
20- The congenital erythropoietic porphyria causes prematurely erythrocytes
hemolysis which caused by insufficient cosynthase.
21-A severe mutation might occur during recombination events when
some pieces of DNA can move to different positions in the genome.
22-In MODY2, the hyperglycemia linked with GCK mutation is often mild.
23-The cystathionine-β-synthase deficiency caused homocystinuria which
occurs in methionine catabolic pathway.
24-Phenylketonuria can be detected in newborns by screening urine samples
25-In diabetic ketosis, liver produces large amounts of ketone bodies, which
leads to decrease in pH then impairs tissue function such as central nervous
26-In Coris disease, lysosomes become engorged with glycogen because they
27-In spontaneous depurination, both purines and pyrimidines are stable under
normal cellular condition.
28- In methylmalonic acidemia, some patients might respond to the therapy
of vitamin B6 to activate the deficient enzyme which called methylmalonyl-
29- Hyperammonemia is treated by supplementing a protein-restricted diet
with large amount of benzoate and phenylacetate.
30- Type 2 DM is a homogeneous syndrome resulting from defects of both
insulin secretion and action.
Q2; Choose the ONLY one correct answer for each question.
1- One of the carnitine function in F.A. metabolism is;
A- To shuttle long-chain F.A. out of mitochondria
B- To shuttle short-chain F.A. out of mitochondria
C- To shuttle long-chain F.A. into mitochondria
D- To shuttle short-chain F.A. into mitochondria
2- The muscle phosphorylase activity is absent in;
A- McArdle glycogen-storage disease (type V)
B- Von Gierke glycogen-storage disease (type I)
C- Cori glycogen-storage disease (type III)
D- Andersen glycogen-storage disease (type IV)
3- The non-sex-linked genes are referred to:
4- Sever hemolytic anemia caused by;
A- glycogen-storage disease
B- Carnitine deficiency
C- G6PD deficiency
D- All the above statements are incorrect
5- In germ cell mutation;
A- Causes somatic cell mutation
B- Occurs during mitosis
C- Occurs only in haploid cells.
D- Is known as dominant mutation.
6- There are other metabolic pathways that can generate NADPH in all cells EXCEPT;
B- Muscle Cells
7- The heterozygous parents have;
A- Each parent has one mutant and one wild-type allele.
B- Mutation in both allele
C- Autosomal recessive trait
D- Abnormal phenotype
8- In Parkinson's disease;
A- Monoamine is precursor of the dopamine
B- Monoamine oxidase is responsible for oxidative deamination of
C- Monoamine oxidase is responsible for oxidative deamination and degradation of Dopamine
D- Dopamine oxidase is responsible for oxidative deamination of
9- In recessive transmission of enzyme deficiencies;
A- The enzyme is insufficient in heterozygote.
B- The enzyme is insufficient in homozygote mutant.
C- The enzyme is insufficient in both heterozygote and homozygote.
D- The enzyme and its substrate are insufficient in both heterozygote
10- Patients who have Von Gierke disease have an increased dependence on;
A- protein metabolism
B- Fat metabolism
C- Glycogen metabolism
D- All the above are incorrect
11- In "One gene, one enzyme" concept.
A- In mutant gene, the end product will be accumulated.
B- Mutation of a gene leads to deficiency of the substrate.
C- Mutation of a gene leads to deficiency of the enzyme and the substrate
D- All the above is incorrect
12- One of the primary affected organs in carnitine deficiency is;
B- Adipose tissue
13- The X-chromosome is important because;
A- It carries genes that are critical for all inherited diseases in human
B- It carries genes affected males than females
C- It carries genes that are critical for human survival
D- Any gene located on this chromosome called X-linked gene
14- GCK enzyme
A- converts glucose to glucose 6- phosphate in pancreatic Beta cells
B- converts glucose to glucose 6- phosphate in pancreatic Beta cells
C- It’s defect causes an increase in glycogen accumulation
D- It’s defect related to IDDM
15- The recessive mutation;
A- May leads to gain function
B- May increase the activity of gene product
C- Individual must be a heterozygous
D- Individual must be a homozygous
16- In albinism:
A- The DOPA Quinone is accumulated
B- Both DOPA and DOPA Quinone are deficient
C- Homogentisic acid oxidase will be deficient
E- Phenylalanine will be accumulated
17- The polygenic disorder is
D- Carnitine deficiency
18- In dominant and recessive mutation;
A- A capital is wild allele in dominant mutation
B- B capital is recessive mutant allele
C- In segregation of dominant mutation, A/a is mutant
D- In segregation of recessive mutation, b/B is mutant