Metabolic Disorders

Question 1

Alkaptonuria

Answer 1

Alkaptonuria is a rare inherited genetic disorder in which the body cannot process the amino acids phenylalanine and tyrosine, which occur in Protein

Result form deficiency of homogentisate oxidase

Question 2

Homocystinuria

Answer 2

Homocystinuria is a disorder of methionine metabolism, leading to an abnormal accumulation of homocysteine and its metabolites (homocystine, homocysteine-cysteine complex, and others) in blood and urine.

Question 3

Hartnup Disease

Answer 3

Hartnup disease (also known as “pellagra-like dermatosis” and “Hartnup disorder”) is an autosomal recessive metabolic disorder affecting the absorption of nonpolar amino acids (particularly tryptophan that can be, in turn, converted into serotonin, melatonin, and niacin)

Question 4

Maple Syrup Urine Disease

Answer 4

Maple syrup urine disease (MSUD), also called branched-chain ketoaciduria, is an autosomal recessive metabolic disorder affecting branched-chain Alpha-Keto Acid Dehydrogenase activity

The condition gets its name from the distinctive sweet odor of affected infants’ urine, particularly prior to diagnosis, and during times of acute illness.

Question 5

Phenylketonuria

Answer 5

Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. Untreated PKU can lead to intellectual disability, seizures, behavioral problems, and mental disorders. It may also result in a musty smell and lighter skin.

Types: Classic, variant
Causes: Genetic (autosomal recessive)
Treatment: Diet low in foods that contain phenylalanine, special supplements
Medication: Sapropterin dihydrochloride

Question 6

Cause of MSUD (stands for)

Answer 6

1. Maple syrup urine disease (MSUD)
2. results from an inborn metabolic error caused by a deficiency of the branched-chain alpha-ketoacid dehydrogenase complex (BCKDC). cDNA clones

Question 7

Cori Disease

Answer 7

Debranching Enzyme deficiency

Question 8

Pompe Disease

Answer 8

Liver Phosporylase deficiency

Question 9

Andersen’s Disease

Answer 9

Branching enzyme deficiency

Question 10

Von Gierke’s Disease

Answer 10

Glucose-6-phosphate deficiency

Question 11

Apoprotein A-I gene

Answer 11

Look up

Question 12

Apoprotein B-100/B-48 gene

Answer 12

Mutation of this gene lead to impaired ability to produce chylomicrons, VLDL & LDL, thereby leading to fat malabsorption, diarrhea, cerebellar ataxia

Question 13

Apoprotein C-II gene

Answer 13

Mutation involving this gene can result in an inability to activate lipoprotein lipase and lead to a clinical disorder that closely resembles lipoprotein lipase deficiency.

Question 14

Apoprotein E gene

Answer 14

Look up

Question 15

LDL receptor gene

Answer 15

Look up

Question 16

Metabolic Function: Anaerobic glycolysis

Answer 16

Skeletal Muscle

Question 17

Gluconeogenesis

Answer 17

Erythrocyte

Question 18

Hormone-controlled lipolysis

Answer 18

Kidneys

Question 19

Oxidation of Keton bodies

Answer 19

Brain

Question 20

Point of entrance to the TCA cycle: Glutamate

Answer 20

Enters the TCA cycle at the level of Alpha-ketoglutarate

Question 21

Point of entrance to the TCA cycle: Tyrosine

Answer 21

Enters the TCA cycle at the level of Fumarate

Question 22

Point of entrance to the TCA cycle: Aspartate

Answer 22

Enters the TCA cycle at the level of Fumarate

Question 23

Point of entrance to the TCA cycle: Proline

Answer 23

Enters the TCA Cycle at the level of Alpha-Ketoglutarate

Question 24

Point of entrance to the TCA cycle: Isoleucine

Answer 24

Enters the TCA cycle at the level of Succinyl-CoA

Question 25

Adrenal Pheochromocytoma

Answer 25

Pheochromocytoma (PCC) is a neuroendocrine tumor of the medulla of the adrenal glands (originating in the chromaffin cells), or extra-adrenal chromaffin tissue that failed to involute after birth, that secretes high amounts of catecholamines, mostly norepinephrine, plus epinephrine to a lesser extent.

Based on the urinary excretion of (VMA) Vanillylmandelic acid derived form epinephrine

Question 26

Catecholamines Definition & 3 Examples

Answer 26

1. any of a group of chemically related neurotransmitters, as epinephrine and dopamine, that have similar effects on the sympathetic nervous system.
2. Among the catecholamines are dopamine, epinephrine (adrenaline), and norepinephrine (noradrenaline). All catecholamines are synthesized from the amino acid l-tyrosine according to the following sequence: tyrosine → dopa (dihydroxyphenylalanine) → dopamine → norepinephrine (noradrenaline) → epinephrine (adrenaline).

Question 27

Vanillylmandelic Acid (VMA)

Answer 27

Vanillylmandelic acid is a chemical intermediate in the synthesis of artificial vanilla flavorings and is an end-stage metabolite of the catecholamines, epinephrine, and norepinephrine. It is produced via intermediary metabolites.

Question 28

Niemann-Pick Disease

Answer 28

Niemann–Pick diseases are a subgroup of lipid storage disorders called sphingolipidoses in which harmful quantities of fatty substances, or lipids, accumulate in the spleen, liver, , bone marrow, and brain.
In the classic infantile type-A variant, a missense mutation causes complete deficiency of sphingomyelinase.

Due to a deficiency a deficiency of the enzyme that hydrolitically removes phosphorylcholine from sphingomyelin

Question 29

Define Phosphorylcholine

Answer 29

Phosphorylcholine is a small haptenic molecule, is found in a wide variety of organisms. Human hepatic tumors undergo an elevation in the concentration of phosphorylcholine as the principal metabolic change is observed.

Phosphorylcholine is the precursor metabolite of choline in the glycine, serine and threonine metabolism pathways and in intermediate between choline and cytidine-diphosphate choline in the glycerophospholipid metabolism pathway

Question 30

Sphinolipidoses

Answer 30

Lipid storage disorders in which harmful quantities of fatty substances, or lipids, accumulate in the spleen, liver, bone marrow, and brain.

Sphingolipidoses are an heterogeneous group of inherited disorders of lipid metabolism affecting primarily the central nervous system.

Question 31

Allopurinol drug

Answer 31

Allopurinol is a xanthine oxidase (XO) inhibitor that prevents the conversion of hypoxanthine and xanthine to uric acid

a synthetic drug which inhibits uric acid formation, used to treat gout and related conditions.

C3H4N4O used to promote excretion of uric acid especially in the treatment of gout.

Question 32

Define Methylmalonic Acidemia

Answer 32

Cobalamin=Vitamin B12 Deficiency

• Methylmalonic acidemia is a disorder in which the body cannot break down certain proteins and fats.
• The result is a buildup of a substance called methylmalonic acid in the blood.
• This condition is passed down through families.
• It is one of several conditions called an “inborn error of metabolism

Question 33

Pellagra

Answer 33

-Pellagra is a disease caused by a lack of the vitamin niacin (vitamin B3)
-Symptoms include inflamed skin, diarrhea, dementia, and sores in the mouth
-Areas of the skin exposed to either sunlight or friction are typically affected first.
Causes: Not enough niacin
Symptoms: Inflammation of the skin, diarrhea, dementia, sores in the mouth
Prevention: Addressing poverty
Treatment: Niacin or nicotinamide supplementation & provide a dietary high content of TRYPTOPHAN