Rafi M D: Textbook of Biochemistry for Medical Students (2 nd Edn) Universities Press

ENZYME -6
Enzyme pattern in disease

Dr. Prakash
Associate Professor

Rafi M D: Textbook of Biochemistry for Medical Students (2 nd Edn) Universities Press

 Specific learning objectives

 Diagnostic importance of enzyme.

 Enzyme pattern in various diseases

1. Myocardial infarction
2. Liver diseases
3. Pancreatic disease
4. Muscular dystrophy

Rafi M D: Textbook of Biochemistry for Medical Students (2 nd Edn) Universities Press

 Clinical Enzymology
Plasma contain two types of enzymes:

• Functional enzymes:
– Actively secreted and always present in plasma
– e.g. Enzyme of Blood coagulation.

• Non-functional enzymes:
– Normally low level present in blood
– Come out of cells of various tissues due to normal wear and tear..
– Level drastically increased in blood due to cell disease or
necrosis of the tissue containing it.
– They help in disease diagnosis..

Rafi M D: Textbook of Biochemistry for Medical Students (2 nd Edn) Universities Press

 Diagnostic importance of Enzymes

The normal serum level of enzyme indicates

the balance between its synthesis and release
in the routine cell turnover.

Rafi M D: Textbook of Biochemistry for Medical Students (2 nd Edn) Universities Press

 Diagnostic importance of Enzymes

The raised enzyme level could be due to

•
Cellular damage,
•
Increased rate of cell turnover,
•
Proliferation of cells,
•
Increased synthesis of enzymes, etc.

•
Serum enzymes are used as markers to detect the cellular
damage which ultimately helps in the diagnosis of
diseases.

Rafi M D: Textbook of Biochemistry for Medical Students (2 nd Edn) Universities Press

 Clinically Important Enzymes

Alanine Transaminase (SGPT)

• Normal serum ALT level: 13-35 U/L in male
10-30 U/L in female
• Present in mainly in hepatocyte cells & also in
skeletal muscle..
• Level elevated in:
– Acute hepatitis (300 to 1000 U/L)
– Cirrhosis of liver (50 to 100U/L)
– Non alcoholic steatohepatitis (NASH).

AST & ALT both elevated in liver disease, but ALT > AST.

Rafi M D: Textbook of Biochemistry for Medical Students (2 nd Edn) Universities Press

 Clinically Important Enzymes

Aspartate Transaminase (SG0T)

• Normal serum AST level : 8-20 U/L
• Present in heart, liver, kidneys, skeletal muscles and
erythrocytes..
• Level elevated in:
– Myocardial infraction
– Viral and toxic hepatitis
– Acute pancreatitis
– Degenerative disease of skeletal muscle
– Severe hemolytic anemia

Level of AST > ALT in case of alcoholic hepatitis.

Rafi M D: Textbook of Biochemistry for Medical Students (2 nd Edn) Universities Press
 Clinically Important Enzymes
Gamma Glutamyl Transferase (GGT)
• Normal serum GGT level : 10-30 U/L
• Helps in synthesis of Glutathione
• It’s level elevated in infective hepatitis & prostate cancer.

• GGT and Alcoholism:

– Sensitive indicator in alcohol abuse.
– GGT level elevated in proportion of alcohol intake.
– And GGT level start declining in few days, when alcohol
intake stops.

Rafi M D: Textbook of Biochemistry for Medical Students (2 nd Edn) Universities Press

 Clinically Important Enzymes
Acid phosphate (ACP)
• Normal serum ACP level : 2.5 -12 U/L
• Secreted by prostate cells, RBC, platelets & WBC..

• ACP level elevated

– In prostate cancer and highly elevated in bone
metastasis of prostate cancer

• Since RBC contain high level of ACP hemolysis must be

avoided during blood collection.
• Rectal examination irritate prostate, that can raise ACP level,
so blood should be collected before that.

Rafi M D: Textbook of Biochemistry for Medical Students (2 nd Edn) Universities Press

 Clinically Important Enzymes

Prostate Specific Antigen (PSA)

• Normal value is 1-5 μg/L
• produced from the secretory epithelium of prostate gland

• It’s a protease & glycoprotein with m. w. of 32KD.

• Level >10 μg/L indicative of prostate cancer.

Rafi M D: Textbook of Biochemistry for Medical Students (2 nd Edn) Universities Press

 Clinically Important Enzymes
Amylase:
• This enzyme helps in carbohydrate digestion…
• Produced by salivary gland and pancreas..
• Normal serum amylase level: 50–120 IU/L
• Level raised 1000 times in acute pancreatitis.
– Peak value seen between 5–12 hours after the onset of
disease and returns to normal levels within 2–4 days

• Moderate increase
– Chronic pancreatitis, mumps (parotitis) & obstruction
of pancreatic duct.

Rafi M D: Textbook of Biochemistry for Medical Students (2 nd Edn) Universities Press

 Clinically Important Enzymes

Lipase:
• helps in fat digestion…
• Present in pancreatic secretion..
• It’s level highly elevated in acute pancreatitis
and remains elevated for 8-14 days.
• Lipase is not elevated in mumps, therefore lipase
estimation has advantage over amylase.

Also increased in carcinoma of pancreas, biliary

diseases and perforating peptic ulcers..

Rafi M D: Textbook of Biochemistry for Medical Students (2 nd Edn) Universities Press

 Enzyme markers in diagnosis
of disease

Rafi M D: Textbook of Biochemistry for Medical Students (2 nd Edn) Universities Press

Rafi M D: Textbook of Biochemistry for Medical Students (2 nd Edn) Universities Press
 Enzymes as Tumor Marker

Elevated enzyme levels may signal the

presence of malignancy.

Rafi M D: Textbook of Biochemistry for Medical Students (2 nd Edn) Universities Press

Rafi M D: Textbook of Biochemistry for Medical Students (2 nd Edn) Universities Press
 Enzyme pattern in various diseases
1. Myocardial infarction
2. Liver diseases
3. Pancreatic disease
4. Muscular dystrophy

Rafi M D: Textbook of Biochemistry for Medical Students (2 nd Edn) Universities Press

 Case study-1
A 55 year old man was brought to the hospital with severe
chest pain, breathlessness and vomiting.
He could be rushed to the city hospital 5 hours after the onset
of chest pain.
His blood was immediately drawn, and the laboratory data are
given below.

1) CK-MB = 600U/L (50-200U/L)

2) AST= 85U/L (10-50U/L)
3) LDH= 315U/L (50-200U/L)

DIAGNOSIS- MYOCARDIAL INFARCTION

Rafi M D: Textbook of Biochemistry for Medical Students (2 nd Edn) Universities Press
 Markers for cardiac diseases
Enzyme markers:
 Creatine phosphokinase -MB (CPK-MB)
 Lactate dehydrogenase (LDH1)
 Aspartate transferase (AST)

Protein markers:
 Cardiac troponin I (cTI) & Cardiac troponin T (cTT)
 Myoglobin (Mb)
 Brain natriuretic peptide (BNP)
 Arterial natriuretic peptide (ANP)
 BNP is a reliable marker of ventricular function

Rafi M D: Textbook of Biochemistry for Medical Students (2 nd Edn) Universities Press

 Proteins in myocardial infarction

Cardiac troponin (CT):

• The proteins cardiac troponins are highly useful for the early
diagnosis of MI.
• Among these troponin I (inhibitory element of actomysin ATPase)
and troponin T (tropomysin binding element) are important.
• CT I :
• Released into circulation within 4 hours after the onset
• reaches a peak value by 12-24 hours, and
• remains elevated for about a week.

Rafi M D: Textbook of Biochemistry for Medical Students (2 nd Edn) Universities Press

 Enzymes in myocardial infarction

Protein myoglobin:
• Also early marker for diagnosis of MI.

• Not specific for cardiac disease.

• High serum concentration of brain natriuretic peptide is

a marker for congestive cardiac failure.

Rafi M D: Textbook of Biochemistry for Medical Students (2 nd Edn) Universities Press

 Summary of diagnostic markers used for the
elevation of acute myocardial infarction
Diagnostic Peak Return to
Diagnostic importance
marker elevation normal levels
Earliest marker, however not
Myoglobin 4-6 hours 20-25 hours
cardiac specific.
Cardiac Earliest marker and cardiac
12-24 hours 5-9 days
troponin I specific.

Relatively Earliest marker and

Cardiac
18-36 hours 5-14 days cardiac specific. However, elevated
troponin T
in other degenerative diseases.

CPK MB 20-30 hours 24-48 hours Cardiac specific and early marker.

LDH1 Relatively late marker and cardiac

48-72 hours 10-15 days
specific.
SGOT 30-48 hours 4-6 days Not cardiac specific.
Rafi M D: Textbook of Biochemistry for Medical Students (2 nd Edn) Universities Press
 Figure : Various enzyme assays and their time course
after onset of acute myocardial infarction.

Rafi M D: Textbook of Biochemistry for Medical Students (2 nd Edn) Universities Press

 Case study-2
An 18 year old medical student had the complaints of loss
of appetite, nausea, headache, malaise and abdominal
pain.
On examination his liver was found to be slightly enlarged.
Laboratory data
• ALT- 180U/L (10-45U/L)
• AST- 80U/L (10-50U/L)
• ALP-10U/L(50-100U/L)

DIAGNOSIS- HEPATITIS

Rafi M D: Textbook of Biochemistry for Medical Students (2 nd Edn) Universities Press

 Enzymes in liver diseases
Liver dysfunction:
Viral hepatitis, cirrhosis and hepatic necrosis:
1. Alanine transaminase
2. Aspartate transaminase
3. Lactate dehydrogenase (LDH4 & 5)

Markedly increase in intrahepatic and extra hepatic

cholestasis are:
1. Alkaline phosphatase
2. 5’-Nucleotidase
Alcoholic liver diseases: Serum γ- glutamyl transpeptidase.

Rafi M D: Textbook of Biochemistry for Medical Students (2 nd Edn) Universities Press

 Case study-3
A 55year old male alcoholic, reached to the hospital with
complaint of severe abdominal pain after a lavish party.
He also had severe vomitings and nausea.

LABORATORY RESULTS:
• Serum Amylase= 480 somogyi U/dl(80-180 S U/L)
• SerumLipase= 8 IU/L (0.2-1.5IU/L)

DIAGNOSIS- ACUTE PANCREATITIS

Rafi M D: Textbook of Biochemistry for Medical Students (2 nd Edn) Universities Press

 Case study-4
An Adult male was brought to the hospital with
complaints of Pain and Muscle Cramps following
exercise.
On enquiry he gave a history of myoglobinuria.
Laboratory data:
• Creatinine Kinase- 1200U/L (15-100 U/L in males)

DIAGNOSIS- MUSCULAR DYSTROPHY

Rafi M D: Textbook of Biochemistry for Medical Students (2 nd Edn) Universities Press

 Enzymes in muscle diseases

In muscular dystrophy: Creatine phosphokinase,

Aldolase and
Aspartate transcarbamoylase

Rafi M D: Textbook of Biochemistry for Medical Students (2 nd Edn) Universities Press

 Enzymes Pattern in Diseases
Disease Enzymes
Hepatic disease  AST
 ALT
 ALP
 GGT
Myocardial infraction  CK-MB
 Cardiac Troponins
 AST
 LDH
Muscle disease  CK –MM
 Aldolase
Bone disease  ALP
Prostate cancer  PSA
 ACP
Rafi M D: Textbook of Biochemistry for Medical Students (2 nd Edn) Universities Press
 Thank you

Rafi M D: Textbook of Biochemistry for Medical Students (2 nd Edn) Universities Press