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AUBF Renal and Metabolic Dse. > Metabolic Disease > Flashcards

Metabolic Disease 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 and Watson-Schartz Test

A

Porphyria (Porphobilinogen)

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6
Q

Organs actively involved in the metabolism of Amino Acids

A

Liver and Kidney

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7
Q

Interconversion of Amino Acid

A

Transamination

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8
Q

Degradation of Amino Acid

A

Deamination

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9
Q

INCREASE in the plasma levels of AA

A

Overflow Aminoaciduria

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10
Q

What will happen to the renal threshold of amino acid in overflow aminoaciduria?

A

Exceed –> additional AA are excreted in urine

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11
Q

Amino acids are not reabsorbed by the tubules
INCREASE in blood = INCREASE in urine

A

No-Threshold Aminoaciduria

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12
Q

Aminoaciduria caused by Defect in tubules (congenital/acquired) –> AA not reabsorbed by the tubules

A

Renal Aminoaciduria

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13
Q

What is the plasma level in renal aminoaciduria?

A

Normal

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14
Q

A.k.a. “inborn errors of metabolism”
Result from: INHERITED DEFECT

A

Primary Aminoaciduria

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15
Q

2 types of defect in primary aminoaciduria

A
  1. Enzyme is defective (deficient) in the SPECIFIC AA metabolic pathway
  2. Tubular Reabsorptive Dysfunction
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16
Q

Induced by: SEVERE LIVER DISEASE or GENERALIZED TUBULAR DYSFUNCTION (e.g. Fanconi Syndrome)

A

Secondary Aminoaciduria

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17
Q

Lysosomal storage disease that results in deposition of cystine in the lysosomes of cells throughout the body (kidneys, bone marrow, spleen)

A

Cystinosis

18
Q

Give the Mode of Inheritance for Cystinosis

A

Autosomal recessive

19
Q

Type of cystinosis that is the most common and severe form. Caused by the accumulation of cystine crystals in the proximal tubular cells of the nephrons causing generalized dysfunction –> fanconi syndrome

A

Nephropathic Cystinosis

20
Q

When is Nephropathic Cystinosis evident?

A

First year of life

21
Q

RARE FORM
Clinical Features: SAME with Nephropathic Cystinosis

A

Intermediate Cystinosis

22
Q

When is intermediate cystinosis evident?

A

Adolescence

23
Q

RARE FORM
CYSTINE DEPOSITION in the CORNEA → Ocular Impairment

A

Ocular Cystinosis

24
Q

This is due to NEPHRONES (PTC) = UNABLE to REABSORBED AA (cysteine, dibasic AA e.g. arginine, lysine, ornithine)

A

Cystinuria

25
Q

What is the Mode of Inheritance for Cystinuria

A

Autosomal recessive

26
Q

Accumulation of branched-chain AA (leucine, isoleucine, valine) and their corresponding α-keto acids in BLOOD, URINE & CSF *give the MOI

A

Maple Syrup Urine Disease (*Autosomal Recessive)

27
Q

Deficient Enzyme in MSUD

A

Branched-Chain α-Keto Acid Dehydrogenase (BCKD)

28
Q

INCREASED urinary excretion of PHENYLPYRUVIC ACID (a ketone) and its metabolites *give the MOI

A

Phenylketonuria (*Autosomal recessive)

29
Q

Deficient Enzyme in PKU

A

PHENYLALANINE HYDROXYLASE

30
Q

Give the characteristic of urine, sweat and breath in PKU (and its cause)

A

Mousy/Musty odor (caused by Phenylacetic acid)

31
Q

Excretion of large amount of HOMOGENTISIC ACID (HGA) in the urine *give the MOI

A

Alkaptonuria (*Autosomal recessive)

32
Q

Deficient enzyme in Alkaptonuria

A

HOMOGENTISIC ACID OXIDASE

33
Q

Increased amount of TYROSINE in the urine → occurs when → tyrosine levels in PLASMA is abnormally high

A

Tyrosinuria

34
Q

Defective melanin production will result to

A

Hypomelanosis/Albinism

35
Q

Increased excretion of urinary melanin = INCREASED production of MELANIN & its colorless precursors (e.g. 5,6- dihydroxyindole)

A

Melanuria

36
Q

Polyuria with presence of glucose in the urine
HIGH:SG

A

Diabetes Mellitus

37
Q

Diabetes means

A

copious amount of urine (POLYURIA) that this disorder produces

38
Q

Mellitus means

A

Sweet

39
Q

Refers to bland taste of urine produced
Low: SG

A

Diabetes Insipidus

40
Q

Inability to properly metabolize galactose to glucose

A

Galactosemia

41
Q

Give the 3 enzymes responsible for Galactosemia

A
  1. Galactose 1-phosphate uridylyltransferase (GALT)
  2. Galactokinase (GALK)
  3. Uridine diphosphate galactose-4-epimerase (GALE)

AUBF Renal and Metabolic Dse. (2 decks)

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