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AUBF2 > Metabolic Diseases > Flashcards

Metabolic Diseases Flashcards

1
Q

Ferric Chloride Test

A

Alkaptonuria: Homogentesic Acid MSUD
Melanoma: Melanin
PKU

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2
Q

Ammoniacal Silver Nitrite

A

Alkaptonuria: Homogentesic Acid

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3
Q

Benedict’s Test

A

Alkaptonuria: Homogentesic Acid

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4
Q

Nitrosonaphthol Test

A

Tyrosinuria

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5
Q

Hoesch Test

A

Porphyria: Porphobilinogen

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6
Q

Watson-Schartz Test

A

Porphyria: Porphobilinogen

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7
Q

Actively involved in the metabolism of Amino Acids

A

LIVER AND KIDNEY

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8
Q

This is the Interconvertion of an Amino Acid

A

TRANSAMINATION

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9
Q

This is the Degradation of an Amino Acid

A

DEAMINATION

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10
Q

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

A

AMMONIUM IONSS
UREA

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11
Q

This is subsequently eliminated from the body by the kidneys

A

Urea

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12
Q

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

A

Overflow Aminoaciduria

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13
Q

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

A

No-Threshold Aminoaciduria

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14
Q

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

A

Renal Aminoaciduria

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15
Q

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

A

PRIMARY AMINOACIDURIA

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16
Q

2 Types of Defects of PRIMARY AMINOACIDURIA:

A
  1. Enzymes id Defective / Deficient in the SPECIFIC AMINO ACID Metabolic Pathway
  2. Tubular Reabsorptive Dysfunction
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17
Q

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

A

SECONDARY AMINOACIDURIA

18
Q

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]

A

CYSTINOSIS

19
Q

What are the 3 Distinct Types of CYSTINOSIS?

A

NEPHROTIC CYSTINOSIS
INTERMEDIATE CYSTINOSIS
OCULAR CYSTINOSIS

20
Q

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

A

NEPHROTIC CYSTINOSIS

21
Q

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

A

INTERMEDIATE CYSTINOSIS

22
Q

Rare Form
Cystine Deposition in the CORNEA → Ocular Impairment

A

OCULAR CYSTINOSIS

23
Q

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

A

CYSTINURIA

24
Q

Dibasic Amino Acid e.g. are?

A

Arginine, Lysine, Ornithine

25
Q

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

A

MAPLE SYRUP URINE DISEASE

26
Q

Deficient Enzyme in MAPLE SYRUP URINE DISEASE:

A

Branched Chain Alpha Keto Acid Dehydrogenase [BCKD]

27
Q

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

A

PHENYLKETONURIA

28
Q

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

A

ALKAPTONURIA

29
Q

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

A

TYROSINURIA

30
Q

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

A

Melanuria [↑ excretion of urinary melanin]

31
Q

This a defective melanin production

A

Hypomelanosis / Albinism

32
Q

CARBOHYDRATE DISORDERS

A

DIABETES MELLITUS
DIABETES INSIPIDUS
GALACTOSEMIA

33
Q

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

A

Diabetes

34
Q

“________”→Means SWEET

A

Mellitus

35
Q

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

A

Polyuria

36
Q

This carbohydrate disorder has a high specific gravity.

A

DIABETES MELLITUS

37
Q

“_________” → Refers to BLAND TASTE of urine produced

A

Insipidus

38
Q

This carbohydrate disorder has a low specific gravity.

A

DIABETES INSIPIDUS

39
Q

Enzymes Responsible for Galactosemia:

A

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

40
Q

This indicate the inability to properly metabolize galactose to glucose

A

GALACTOSURIA

AUBF2 (11 decks)

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