Clinical Enzymology Overview

<p>Proteolysis (D)</p> Signup and view all the answers

<p>Lead poisoning leading to cytochrome oxidase inhibition (D)</p> Signup and view all the answers

<p>Starvation response (A)</p> Signup and view all the answers

<p>LDH 1, 2, 3 (B)</p> Signup and view all the answers

<p>Rate-limiting enzyme (B)</p> Signup and view all the answers

<p>ALT (A)</p> Signup and view all the answers

<p>Non-functional enzymes are secreted due to cell disruption. (A)</p> Signup and view all the answers

<p>CK-MB (C)</p> Signup and view all the answers

<p>Body weight (A)</p> Signup and view all the answers

<p>ACP (B)</p> Signup and view all the answers

<p>Active enzymes (D)</p> Signup and view all the answers

<p>ALK (A)</p> Signup and view all the answers

<p>Age (D)</p> Signup and view all the answers

<p>Homogentisate 1,2-dioxygenase (D)</p> Signup and view all the answers

<p>Maple syrup (D)</p> Signup and view all the answers

<p>Cartilage and heart valves (D)</p> Signup and view all the answers

<p>Ultrasound imaging (B)</p> Signup and view all the answers

<p>Maple syrup urine disease (D)</p> Signup and view all the answers

<p>Amino acid transport disorder (B)</p> Signup and view all the answers

<p>Toxic accumulation of metabolites (D)</p> Signup and view all the answers

<p>Phenylketonuria (B)</p> Signup and view all the answers

<p>35% (A)</p> Signup and view all the answers

<p>Lipase (A)</p> Signup and view all the answers

<p>Cholestasis (C)</p> Signup and view all the answers

<p>Y-glutamyl-transferase (GGT) (A)</p> Signup and view all the answers

<p>Alkaline Phosphatase (ALP) (B)</p> Signup and view all the answers

<p>Acid Phosphatase (ACP) (D)</p> Signup and view all the answers

<p>Creatine Kinase (CK) (C)</p> Signup and view all the answers

<p>Lactate Dehydrogenase (LDH) (A)</p> Signup and view all the answers

<p>Type 2 Diabetes Mellitus (B)</p> Signup and view all the answers

<p>FBG &gt; 8 mmol/L (A)</p> Signup and view all the answers

<p>Quantitative assay for NADP+ reduction (A)</p> Signup and view all the answers

<p>Hyperuricemia (B), Hypoglycemia (D)</p> Signup and view all the answers

<p>Increased liquid intake (A), Injection of insulin (B)</p> Signup and view all the answers

<p>Hepatic fructokinase (C)</p> Signup and view all the answers

<p>Diabetes Mellitus (A)</p> Signup and view all the answers

<p>Pentose phosphate pathway (D)</p> Signup and view all the answers

<p>Accumulation of phenylalanine in the blood (B)</p> Signup and view all the answers

<p>Tyrosinemia (A)</p> Signup and view all the answers

<p>Enlarged liver and spleen (A)</p> Signup and view all the answers

<p>Vaacular occlusive disease (D)</p> Signup and view all the answers

<p>Guthrie bacterial inhibition assay (B)</p> Signup and view all the answers

<p>Maple syrup odor (B)</p> Signup and view all the answers

<p>Death without liver transplantation (B)</p> Signup and view all the answers

<p>Type I diabetes (B)</p> Signup and view all the answers

Enzymes that are produced inside cells and released into the blood when cell damage occurs. They have no specific function in the blood and their levels increase when cells are injured.

Enzymes that are normally found in the blood and have specific roles in the bloodstream.

Enzymes that catalyze the same chemical reaction but have different molecular structures, making them separable by electrophoresis.

Enzymes produced and stored as inactive forms (proenzymes) before being activated for specific functions.

The presence of certain enzymes in the blood, usually found in specific organs, indicates possible disease.

Factors that can influence the accuracy of enzyme measurements in blood samples. They may be related to the testing procedure or the individual's biological state.

Levels of certain enzymes in the blood can be indicative of specific diseases.

Different enzymes are located in different parts of the cell; their presence in blood can indicate which organ is affected.

A type of creatine kinase found predominantly in cardiac muscle. Its levels increase in the blood during a heart attack, making it a valuable diagnostic marker.

An inflammatory condition of the pancreas, often resulting from elevated digestive enzymes in the blood. Diagnosed by increased amylase and lipase levels and abdominal pain.

An enzyme that hydrolyzes organic phosphate, increasing pH. Found in various tissues, but elevated levels indicate bone formation or problems in the liver or bile ducts.

Found in the prostate, liver, red blood cells, platelets, and bones. Its level in the blood is significantly elevated in men with prostate cancer.

An enzyme found in the liver, kidneys, pancreas, and prostate. Elevated levels indicate liver damage, particularly in conditions like obstructive jaundice.

A condition where blood clots form in the lungs, blocking blood flow. Diagnosed by elevated levels of enzymes like LDH, CPK, and B-hydroxybutyrate dehydrogenase.

A condition involving tissue death in the lungs. Diagnosed by elevated LDH-3 and Alkaline phosphatase levels.

A heart attack, also known as a myocardial infarction. Diagnosed by elevated levels of several enzymes, including AST, LDH, B-hydroxybutyrate dehydrogenase, and CPK.

Process of breaking down large molecules into smaller ones within cells.

Process of building up large molecules from smaller ones, requiring energy.

Metabolic disorders can result from a buildup of intermediate products, a deficiency in final products, or an increase in other metabolic pathways.

Absence or deficiency of certain enzymes due to genetic factors.

Metabolic disorders can arise from the lack of hormones that regulate metabolism, often caused by both genetic and non-genetic factors.

Inhibition of enzymes by substances ingested or entering cells.

Metabolic disorders may occur due to the lack of cell membrane receptors responsible for hormone or regulator action.

Metabolic disorders are often complex and can be caused by various factors, including genetic variations, enzyme deficiencies, hormone imbalances, or external factors.

A group of rare genetic disorders where the body is unable to break down food components normally due to missing or faulty enzymes.

A type of IEM where the body cannot break down glycogen stored in the liver, leading to its accumulation.

An IEM caused by a deficiency in the enzyme homogentisate 1,2-dioxygenase, which participates in tyrosine metabolism.

IEMs caused by a deficiency in enzymes or transport proteins responsible for amino acid breakdown and/or transport.

A rare genetic disorder affecting phenylalanine and tyrosine metabolism. It results in the accumulation of homogentisic acid (alkapton) in the body, leading to dark urine and potential health issues.

A silent disorder, if untreated, can lead to brain damage and developmental disabilities. It involves the inability to properly break down phenylalanine, leading to its accumulation in the body.

A condition characterized by excess alkapton in the body, which can cause damage to cartilage, heart valves, and kidney stones.

A distinctive feature of alkaptonuria where ear wax turns red or black after being exposed to air.

A condition where the body's cells become resistant to insulin, leading to high blood sugar levels.

A test that measures the amount of glucose in the urine. It helps detect if blood sugar levels are too high.

A blood test that measures the amount of glucose in the blood after fasting (not eating) for at least 8 hours.

A test that measures the amount of glucose in the blood after drinking a sugary drink. It helps assess how well the body regulates blood sugar.

A condition where the body cannot break down glucose properly due to a deficiency in the enzyme glucose-6-phosphate dehydrogenase in red blood cells.

A genetic disorder where the body cannot properly store and break down glycogen, leading to low blood sugar levels.

A disorder caused by a deficiency in the enzyme hepatic fructokinase. It prevents the body from properly breaking down fructose.

A type of enzyme found in the liver that helps break down fructose.

A rare genetic disorder where the body cannot break down phenylalanine, an amino acid found in food. This leads to a build-up of phenylalanine in the blood, causing serious health issues.

Elevated levels of phenylalanine in the blood, 30-50 times higher than normal, are a hallmark of PKU. This excess causes a range of symptoms.

Phenylpyruvate, phenylacetate, and phenyllactate are some of the toxic metabolites formed when the body struggles to break down phenylalanine. They contribute to PKU complications.

An inherited metabolic disorder affecting the urea cycle, a crucial pathway for removing ammonia from the body. This leads to a build-up of ammonia, causing severe health problems.

Acute metabolic crisis, characterized by vomiting, breathing difficulties, lethargy, and even coma, can occur in infants with OTC deficiency.

A genetic disorder where the body lacks the enzyme fumarylacetoacetate hydrolase (FAH), leading to toxic metabolic product accumulation and damage to vital organs.

Poor weight gain, liver and spleen enlargement, abdominal swelling, leg edema, and increased bleeding are some of the alarming signs of acute tyrosinemia.

Children with chronic tyrosinemia may have enlarged liver and spleen, abdominal fluid build-up, poor weight gain, and frequent vomiting and diarrhea. Liver transplantation is often required.