Metabolic Diseases

Question 1

Ferric Chloride Test

Answer 1

Alkaptonuria: Homogentesic Acid MSUD
Melanoma: Melanin
PKU

Question 2

Ammoniacal Silver Nitrite

Answer 2

Alkaptonuria: Homogentesic Acid

Question 3

Benedict’s Test

Answer 3

Alkaptonuria: Homogentesic Acid

Question 4

Nitrosonaphthol Test

Answer 4

Tyrosinuria

Question 5

Hoesch Test

Answer 5

Porphyria: Porphobilinogen

Question 6

Watson-Schartz Test

Answer 6

Porphyria: Porphobilinogen

Question 7

Actively involved in the metabolism of Amino Acids

Answer 7

LIVER AND KIDNEY

Question 8

This is the Interconvertion of an Amino Acid

Answer 8

TRANSAMINATION

Question 9

This is the Degradation of an Amino Acid

Answer 9

DEAMINATION

Question 10

Amino Acid→results in formation of ___________ →this AI is used to form → ______

Answer 10

AMMONIUM IONSS
UREA

Question 11

This is subsequently eliminated from the body by the kidneys

Answer 11

Urea

Question 12

Cause: Increase in the plasma levels of Amino Acid
Renal Threshold for Amino Acid reabsorption: Exceeded→Additional AA are excreted in the urine

Answer 12

Overflow Aminoaciduria

Question 13

Amino Acid not reabsorbed by the tubules ↑Blood = ↑Urine

Answer 13

No-Threshold Aminoaciduria

Question 14

Plasma levels of Amino Acid: Normal Cause: Defect in tubules [congenital / acquired]→not reabsorbed by the tubules = ↑ amount in urine

Answer 14

Renal Aminoaciduria

Question 15

a.k.a. Inborn Error of Metabolism
Results from: Inherited Defect

Answer 15

PRIMARY AMINOACIDURIA

Question 16

2 Types of Defects of PRIMARY AMINOACIDURIA:

Answer 16

1. Enzymes id Defective / Deficient in the SPECIFIC AMINO ACID Metabolic Pathway
2. Tubular Reabsorptive Dysfunction

Question 17

Induced by: Severed Liver Disease or Generalized Tubular Dysfunction [e.g. Fanconi Syndrome]

Answer 17

SECONDARY AMINOACIDURIA

Question 18

MOI: Autosomal Recessive

Lysosomal Storage Disease→results in→Deposition of Cystine in the Lysosomes of cells throughout the body [Kidneys, Eyes, Bone Marrow and Spleen]

Answer 18

CYSTINOSIS

Question 19

What are the 3 Distinct Types of CYSTINOSIS?

Answer 19

NEPHROTIC CYSTINOSIS
INTERMEDIATE CYSTINOSIS
OCULAR CYSTINOSIS

Question 20

Most common and severe form
Accumulated CYSTINE crystallizes within the PROXIMAL TUBULAR CELLS of the nephrons → Causing → Generalized TUBULAR Dysfunction → Development of FANCONI Syndrome
Evident: 1st Year of Life

Answer 20

NEPHROTIC CYSTINOSIS

Question 21

Rare Form
Clinical Features: Same with Nephrotic Cystinosis
Evident: Adolescence

Answer 21

INTERMEDIATE CYSTINOSIS

Question 22

Rare Form
Cystine Deposition in the CORNEA → Ocular Impairment

Answer 22

OCULAR CYSTINOSIS

Question 23

MOI: Autosomal Recessive
Due to: Nephrones [PTC] = Unable to Reabsorb Amino Acid
▪ Cysteine
▪ Dibasic Amino Acid e.g. Arginine, Lysine, Ornithine

Answer 23

CYSTINURIA

Question 24

Dibasic Amino Acid e.g. are?

Answer 24

Arginine, Lysine, Ornithine

Question 25

MOI: Autosomal Recessive Accumulation of Branched-chain Amino Acid [Leucine, Isoleucine, Valine] and their corresponding Alpha keto acid in: ▪ Blood ▪ Urine ▪ CSF

Answer 25

MAPLE SYRUP URINE DISEASE

Question 26

Deficient Enzyme in MAPLE SYRUP URINE DISEASE:

Answer 26

Branched Chain Alpha Keto Acid Dehydrogenase [BCKD]

Question 27

MOD: Autosomal Recessive ↑ Urinary excertion of PHENYLPYRUVIC ACID [a ketone] and its metabolites Deficient Enzyme: Phenylalanine Hydroxylase Urine, Sweat, and Breath: Characteristic Mousy / Musty Odor→Caused by→Phenylacetic Acid

Answer 27

PHENYLKETONURIA

Question 28

MOI: Autosomal Recessive Excertion of large amount of HOMOGENTISIC ACID (HGA) in the urine Unusual darkening of the urine when ALKALI is added Deficient Enzyme: Homogentisic Acid Oxidase

Answer 28

ALKAPTONURIA

Question 29

↑ Amount of TYROSINE in the urine → occurs when → Tyrosine levels in Plasma is abnormally ↑

Answer 29

TYROSINURIA

Question 30

↑ production of Melanin and its colorless precursorsors [5,6-dihydroxyindole]

Answer 30

Melanuria [↑ excretion of urinary melanin]

Question 31

This a defective melanin production

Answer 31

Hypomelanosis / Albinism

Question 32

CARBOHYDRATE DISORDERS

Answer 32

DIABETES MELLITUS DIABETES INSIPIDUS GALACTOSEMIA

Question 33

“________” → Copious amount of urine [Polyuria] that this disorder produces

Answer 33

Diabetes

Question 34

“________”→Means SWEET

Answer 34

Mellitus

Question 35

This is called when there is a presence of Glucose in the urine

Answer 35

Polyuria

Question 36

This carbohydrate disorder has a high specific gravity.

Answer 36

DIABETES MELLITUS

Question 37

“_________” → Refers to BLAND TASTE of urine produced

Answer 37

Insipidus

Question 38

This carbohydrate disorder has a low specific gravity.

Answer 38

DIABETES INSIPIDUS

Question 39

Enzymes Responsible for Galactosemia:

Answer 39

▪ Galactose 1-phosphate uridylytransferase [GALT] ▪ Galactokinase [GALK] ▪ Uridine Diphosphate Galactose-4-Epimerase [GALE]

Question 40

This indicate the inability to properly metabolize galactose to glucose

Answer 40

GALACTOSURIA