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MLS 425 Urinalysis and Body Fluids II > Metabolic Diseases > Flashcards

Metabolic Diseases Flashcards

1
Q

The ferric chloride test will react with what in order to form an orange color?

A

Phenyl Pyruvic Acid.

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2
Q

What are the two reagents for ferric chloride testing?

A

Ferric chloride and sulfuric acid.

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3
Q

What is one disadvantage of the ferric chloride test?

A

Many false-positives occur.

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4
Q

What is the nitrosonaphthol test testing for?

A

The presence of Tyrosine metabolites.

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5
Q

Thormahlen (sodium nitroprusside test) is looking for the presence of what?

A

Melanogen.

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6
Q

What are we looking for when we run alkali tests?

A

The presence of homogentisic acid.

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7
Q

What reagent is used in alkali testing?

A

10% NaOH.

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8
Q

The dinitrophenylhydrazine test is looking for the presence of what?

A

Alpha-ketones.

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9
Q

For cyanide nitroprusside testing, what are we looking for the presence of?

A

Amino acids that contain a free sulfa group or a disulfide bond. (ex: cysteine, homocysteine, cystine, and homocystine).

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10
Q

How would you differentiate between a renal disorder and an overflow disorder?

A

Renal disorders we’ll see specific metabolites in the urine, whereas an overflow disorder is a disruption in the normal metabolic pathway, which causes plasma concentrations to increase.

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11
Q

In nephropathic cystinosis, there is a build of of cystine crystals in the ____.

A

Proximal convoluted tubule.

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12
Q

In nephropathic cystinosis, the damage from the cystine crystals results in what condition?

A

Nephrotic syndrome.

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13
Q

If nephropathic cystinosis is left undetected, patients will suffer from what conditions?

A

Growth retardation, rickets, polyurea, polydipsia, dehydration, and acidosis.

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14
Q

How would you differentiate between intermediate cystinosis and nephropathic cystinosis?

A

The symptoms are the same; patients don’t begin showing symptoms until age 20 or 30.

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15
Q

In ocular cystinosis, what part of the eye is effected?

A

Cornea.

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16
Q

Patients with cystinosis, what test is commonly performed?

A

Cyanide-nitroprusside test, positive results produce a red to purple color.

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17
Q

Describe Maple Syrup Urine Disease.

A

A rare autosomal recessive inborn error of metabolism that will result in the accumulation of valine, leucine, and isoleucine and their corresponding alpha-ketoacids in blood, cerebrospinal fluid, and urine.

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18
Q

In maple syrup urine disease alpha-ketoacids accumulate because the lack of what enzyme?

A

Branched-chained alpha-ketoacid dehydrogenase.

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19
Q

What causes the distinct urine smell in patients with maple syrup urine disease?

A

The buildup of alpha-ketoacids.

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20
Q

Which test can aid in diagnosing maple syrup urine disease?

A

Ferric chloride test; if alpha-ketones are present, it will produce a gray-green color.

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21
Q

With a patient with maple syrup urine disease, what will peak during chromatography testing?

A

Where we have leucine, valine, and isoleucine.

22
Q

Phenylalanine-tyrosine disorders of the phenylalanine-tyrosine metabolic pathway results in an overproduction of what?

A

Melanin.

23
Q

Phenylketonuria is a autosomal recessive disorder of which people are either lacking the enzyme ___ ___ or they have a defect in this enzyme.

A

phenylalanine hydroxylase

24
Q

What is the result of a patient with phenylketonuria lacking phenylalanine hydroxylase?

A

They are unable to breakdown phenylalanine to tyrosine. Resulting in excess phenylpyruvate and alpha-ketones being metabolized.

25
Q

What condition is characteristic of distinct mousey odor to their urine?

A

Phenylketonuria.

26
Q

What historic tests are used to detect phenylketonuria?

A

Gunthrie test and ferric chloride test.

27
Q

Describe the Guthrie test.

A

The test was used on an inhibitor plate that was streaked with Bacillus subtilis with filter paper that was saturated with blood placed over the plate. If ketones are present, the inhibitor would deactivate showing growth.

28
Q

Describe alkaptonuria.

A

A rare recessive disorder of which large amounts of homogentisic acid ends up in the urine.

29
Q

In children, what is a unique characteristic of alkapronuria?

A

Darkening in the diaper; very strong odor.

30
Q

Alkapronuria in adults can lead to what other complications?

A

Liver damage and cardiac problems.

31
Q

How would we go about diagnosing alkaptonuria?

A

Ferric chloride testing produces a transient blue color.

32
Q

What is the common treatment for alkapronuria?

A

Vitamin C.

33
Q

Describe tyrosinuria.

A

An elevated amount of tyrosine present in the plasma.

34
Q

What are some causes of tyrosinluria?

A

Inherited disorder (liver shuts down as a result of tyrosine buildup) or a metabolic condition.

35
Q

Describe type 1 hereditary tyrosinuria.

A

Deficiency of the enzyme fumaryl acetoacetate hydroxylase (FAH).

36
Q

Describe type 2 hereditary tyrosinuria.

A

Defect in the enzyme tyrosine aminotransferase.

37
Q

What test can be used to detect tyrosinuria?

A

Nitrosonaphthol; ferric chloride test - fading green color.

38
Q

What are people termed who do not produce sufficient melanin.

A

Albinos.

39
Q

___ is a breakdown product of tyrosine.

A

Melanin.

40
Q

When would we see increased amounts of melanin?

A

From melanomas, which is a malignant neoplasm.

41
Q

What color would a ferric chloride test turn for a patient with melanuria?

A

Gray or black precipitant.

42
Q

Glucose becomes present in the urine when the renal plasma threshold has reached about ___ to ___ mg/dL in the blood.

A

160 to 180

43
Q

Describe type I diabetes.

A

An autoimmune disorder in which there is a direct effect of the beta-islets of the pancreas. Patients are no longer able to produce insulin for themselves.

44
Q

Describe type II diabetes.

A

The tissues are unable to utilize insulin properly. Glucose commonly ends up in the urine as a result.

45
Q

Describe type I galactosuria.

A

The deficiency of the enzyme GALT.

46
Q

Describe type II galactosuria.

A

The deficiency of the enzyme galactose kinase (GALK).

47
Q

Describe type III galactosuria.

A

Deficiency in the enzyme GALE.

48
Q

Describe neurogenic diabetes insipidus.

A

When synthesis and released of antidiuretic hormone is reduced.

49
Q

Describe nephrogenic diabetes insipidus.

A

Normal synthesis of ADH, but with defective renal tubular response to ADH.

50
Q

What are some of the common causes of porphyrin disorders?

A

Lead poisoning, excessive alcohol exposure, iron deficiency, anemia, chronic liver disease, and renal disease.

51
Q

Porphyrias are characterized by what very distinct color?

A

Port-wine color.

52
Q

What tests are used to differentiate between porphobilinogen and urobilinogen?

A

Hoesch test or the Watson Schwartz test.

MLS 425 Urinalysis and Body Fluids II (12 decks)

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