Metabolic Disorders

Question 1

Phenylalanine-Tyrosine Disorders

Failure to inherit a gene that produces Phenylalanine hydrolxyase

Answer 1

Phenylketonuria

Question 2

Test for Phenylketonuria

Answer 2

Gutherie Test (Bacterial Inhibition)
FeCI3 (Blue-green)

Question 3

In every 10, 000 to 20, 000 birth, there is _ case of PKU

Answer 3

1

Question 4

Clinical significance of PKU

Answer 4

Mental retardation if left untreated
Fair-skin complexion (lack of tyrosine)

Question 5

Phenylalanine-Tyrosine Disorders

Disorder that has a:

FeCI3 - Transient GREEN
Nitroso-napthol - Orange Red

Answer 5

Tyrosyluria

Question 6

Phenylalanine-Tyrosine Disorders

Failure of the gene to produce enzyme homogentisic acid

Answer 6

Alkaptonuria

Question 7

Phenylalanine-Tyrosine Disorders

FeCI3 = Transient Blue
Benedicts/Clinitest = Yellow precipitate

Answer 7

Alkaptonuria

Question 8

Phenylalanine-Tyrosine Disorders

Overproliferation of melanocytes

Answer 8

Melanuria

Question 9

Phenylalanine-Tyrosine Disorders

FeCI3 = Gray or Black precipitate
Sodium nitroprusside = Red
Ehrlich = Red

Answer 9

Melanuria

Question 10

Branched-chain Amino Acid Disorders (2)

Answer 10

Maple Syrup Disease
Organic Acidemias

Question 11

Branched-chain Amino Acid Disorders

Accumulation of Leucine, Isoleucine, and Valine (ILV) in blood and urine

Answer 11

Maple Syrup Disease

Question 12

Branched-chain Amino Acid Disorders

Test to determine MSU uses

Answer 12

2-4 DNPH (Dinitrophenylhydrazine) = YELLOW TURBIDITY/PRECIPITATE

Question 13

Branched-chain Amino Acid Disorders

Symptoms include early server illness
- VOMITING
- Hypoglysemia
- Ketonuria
- Increased serum ammonia
- metabolic acidosis

Answer 13

Organic Acidemias

Question 14

Branched-chain Amino Acid Disorders

Organic Acidemias is usually associated in

Answer 14

Isovaleric, Proprionic, and Methylmalonic acidemias

Question 15

Tryptophan Disorders (2)

Answer 15

Indicanuria
Argentaffinoma

Question 16

Tryptophan Disorders

Associated with Intestinal Disorder
Hartnup Disease

Answer 16

Indicanuria

Question 17

Tryptophan Disorders

Presence of Blue urine

Answer 17

Indicanuria

Question 18

Tryptophan Disorders

Test for Indicanuria

Answer 18

FeCI3 = Purple with CHLOROFORM

Question 19

Tryptophan Disorders

Condition also known as Blue Diaper Syndrome

Answer 19

Indicanuria

Question 20

Tryptophan Disorders

Increase in 5-HIAA (HydroxyIndoleAcetic Acid)

Answer 20

Argentaffinoma

Question 21

Metabolite of Serotonin

Answer 21

5-HIAA

Question 22

Tryptophan Disorders

Serotonin is produced by _____

Answer 22

TRYTOPHAN of Argentaffin Cells

Question 23

Tryptophan Disorders

Serotonin is spread throughout the body by

Answer 23

Platelets

Question 24

Tryptophan Disorders

In cases of __________ there’s an excessive production of Serotonin = Increased 5 HIAA excretion in urine

Answer 24

Carcinoid Tumors

Question 25

Tryptophan Disorders Argentaffinoma FeCI3 = Nitroso-Napthol =

Answer 25

FeCI3 = Blue-green Nitroso-Napthol = Purple with NITRIC ACID

Question 26

Cystine Disorders (3)

Answer 26

Cystinuria Cystinosis Homocystinuria

Question 27

Cystine Disorders Cystine deposits in BM, cornea, lymph nodes, and internal organs

Answer 27

Cystinosis

Question 28

Cystine Disorders Cytinosis Cyanide Nitroprusside =

Answer 28

red-purple

Question 29

Cystine Disorders Defects in metabolism of Methionine

Answer 29

Homocystinuria

Question 30

Cystine Disorders Homocystinuria clinical significance

Answer 30

Mental Retardation Cataracts

Question 31

Cystine Disorders Homocystinuria Silver Nitroprusside =

Answer 31

red-purple

Question 32

Accumulation of incompletely metabolized polysaccharide on the lysosome of the the connective tissue cells

Answer 32

Mucopolysachharide Disorders

Question 33

Hurler's , Hunter's Sanflippo's Syndrome is a

Answer 33

Mucopolysaccharide Disorders

Question 34

Products mostly found in the urine of patient with Mucopolysaccharide Disorder

Answer 34

Heparan sulfate Keratan sulfate Dermatan sulfate

Question 35

Test used to diagnose Hurler's, Hunter's, Sanflippo's Syndrome are a. Acid-albumin = b. Cetyltrimethyammonium Bromide (CTAB) = C. Metachromatic staining =

Answer 35

a. Acid-albumin = white turbidity b. Cetyltrimethyammonium Bromide (CTAB) = white turbidity C. Metachromatic staining = Azure A in acetic Acid ; MPS Paper = Blue spot

Question 36

Purine Disorders massive excretion of URIC ACID CRYSTALS

Answer 36

Lesch-Nyhan Syndrome

Question 37

Purine Disorders Lesch-Nyhan Syndrome is characterized by

Answer 37

Severe motor defect Gout Renal Calculi

Question 38

Purine Disorders In Lesch-Nyhan Syndrome there is a failure of gene to produce

Answer 38

Hypoxanthine guanine phosphoribosyltransferase

Question 39

Purine Disorders Orange-sand in diapers

Answer 39

Lesch-Nyhan Syndrome

Question 40

Disorders of Porphyrin Metabolism

Answer 40

Porphyrias

Question 41

Can be inherited or acquired through erythocytic or hepatic malfunctions or toxic agents

Answer 41

Porphyrias

Question 42

Can be used only to detect for ALA and PHORPHOBILINOGEN

Answer 42

Ehrlich Reaction

Question 43

Used to convert ALA to Phorphobilinogen prior to ehrlich reaction

Answer 43

Acetyl Acetone

Question 44

May be used for other Porphyrins

Answer 44

Fluorescence under UV Light in the 550 - 600 nm range

Question 45

Mousy Odor

Answer 45

PKU

Question 46

Blue urine

Answer 46

Indicanuria

Question 47

Sulfur Odor

Answer 47

Cystinnuria

Question 48

Black color

Answer 48

Alkaptonuria

Question 49

Orange-sand diaper

Answer 49

Lesch-Nyhan Syndrome