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a-u-b-f readings eeheh > Metabolic Disorders > Flashcards

Metabolic Disorders Flashcards

1
Q

Amino Acid Disorders:

A
  1. Phenylalanine-Tyrosine Disorders
  2. Branched-Chain Amino Acid Disorders
  3. Tryptophan Disorders
  4. Cystine Disorders
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2
Q

Phenylalanine-Tyrosine Disorders: (4)

A
  1. Phenylketonuria
  2. Tyrosyluria
  3. Melanuria
  4. Alkaptonuria
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3
Q

Branched-Chain Amino Acid Disorders: (2)

A
  1. Maple Syrup Urine Disease
  2. Organic Acidemias
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4
Q

Tryptophan Disorders:

A
  1. Indicanuria
  2. 5-Hydroxyindoleacetic Acid
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5
Q

Cystine Disorders

A
  1. Cystinuria
  2. Cystinosis
  3. Homocystinuria
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6
Q

Amino acid disorders with urinary screening tests: (9)

A
  1. Phenylketonuria (PKU)
  2. Tyrosyluria
  3. Alkaptonuria
  4. Melanuria
  5. Maple syrup urine disease
  6. Organic acidemias
  7. Indicanuria
  8. Cystinuria
  9. Cystinosis
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7
Q

This type is the result from disruption of a normal metabolic pathway that causes increased plasma concentrations of the nonmetabolized substances

A

Overflow type

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8
Q

This type is abnormal accumulation caused by malfunctions in the tubular reabsorption mechanism

A

Renal type

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9
Q

This is referred to as disruption of enzyme function can be caused by failure to inherit the gene to produce a particular enzyme by organ malfunction from disease or toxic reactions

A

Inborn error of metabolism (IEM)

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10
Q

Where is blood collected for newborn screening test?

A

Infant’s heel

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11
Q

This is now performed for testing many substances in newborn screening test. It is capable of screening the infant blood sample for specific substances associated with particular IEMs.

A

tandem mass spectrophotometry (MS/MS)

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12
Q

Metabolic defects cause overproduction of
melanin.

A

Phenylalanine-Tyrosine Disorders

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13
Q

Most well known of the aminoacidurias

A

Phenylketonuria (PKU)

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14
Q

PKU is first identified by whom?

A

Ivan Følling

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15
Q

Urine odor of patient with PKU

A

Mousy odor

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16
Q

In PKU, these substances are increased

A

Keto acids, including phenylpyruvate.

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17
Q

Explain why phenylketonuria (PKU) occurs.

A

This occurs when the normal conversion of phenylalanine to tyrosine is disrupted due to the decreased production of tyrosine and its pigmentation metabolite, melanin. Failure to inherit the gene to produce the enzyme phenylalanine hydroxylase.

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18
Q

used as a follow-up test to ensure proper dietary control in previously diagnosed cases and as a means of monitoring the dietary intake of pregnant women known to lack phenylalanine hydroxylase

A

Urine testing using ferric chloride

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19
Q

Urine test that is based on the ferric chloride reaction performed by tube test

A

Urine test for phenylpyruvic acid

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20
Q

Color produced when ferric chloride is added to urine with phenylpyruvic acid

A

Permanent blue-green color

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21
Q

The accumulation of excess tyrosine in the plasma

A

Tyrosinemia

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22
Q

Frequently seen metabolic disorder in premature infants caused by underdevelopment of the liver function required to produce the enzymes necessary to complete the tyrosine metabolism

A

Transitory tyrosinemia

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23
Q

Another form of tyrosine metabolism disorder that is produced from Acquired Severe Liver Disease that resemble the transitory newborn variety but in a more serious condition/

A

Tyrosyluria

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24
Q

Explain Type 1 Tyrosinemia

A

Caused by the deficiency
of the enzyme fumarylacetoacetate hydrolase (FAH).

Produces a generalized renal tubular disorder and progressive
liver failure in infants soon after birth.

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25
Q

Explain Type 2 Tyrosinemia

A

Caused by lack of the enzyme tyrosine aminotransferase.

Persons develop corneal erosion and lesions on the palms, fingers,
and soles of the feet believed to be caused by crystallization of
tyrosine in the cells

26
Q

Explain Type 3 Tyrosinemia

A

caused by lack of
the enzyme p-hydroxyphenylpyruvic acid dioxygenase.

This can result in mental retardation if dietary restrictions of phenylalanine and tyrosine are not implemented.

27
Q

Screening test available for all types of tyrosinemia

A

Tandem Mass Spectrophotometry (MS/MS)

28
Q

Urine test used for tyrosyluria

A

Nitro-naphthol

29
Q

This results from deficient production of melanin

A

Albinism

30
Q

Why is elevated urinary melanin a significant finding?

A

It indicates proliferation of normal melanin-producing cells which produces malignant melanoma.

31
Q

Colorless precursor of melanin that is secreted by tumors of malignant melanoma

A

5,6-dihydroxyindole

32
Q

the third major defect in the phenylalanine-tyrosine pathway and occurs from failure to inherit the gene to produce the enzyme homogentisic acid oxidase

A

Alkaptonuria

33
Q

These disorders can be developed when a person has alkaptonuria

A

Liver and Cardiac disorders

34
Q

Caused by an IEM, inherited as an autosomal recessive trait, where failure to inherit the gene for the enzyme necessary to produce oxidative decarboxylation of these keto acids results in their accumulation in the blood and urine

A

Maple Syrup Urine Disease (MSUD)

35
Q

Urine screening test for MSUD

A

2,4-dinitrophenylhydrazine

36
Q

may be suspected when urine specimens, and sometimes even the patient, possess a characteristic odor of “sweaty feet.”

A

Isovaleric acidemias

37
Q

What is the cause of sweaty feet odor in Isovaleric acidemia?

A

This odor is caused by the accumulation of isovalerylglycine due to a deficiency of isovaleryl coenzyme A in the leucine pathway

38
Q

Organic acidemias that are detected using MS/MS in newborn screenings

A

Isovaleric acidemia
Propionic acidemia
Methylmalonic acidemias

39
Q

a rare inherited disorder, increased amounts of tryptophan are converted to indole.

A

Hartnup disease

40
Q

“Blue diaper syndrome”

A

Hartnup disease

41
Q

Generalized aminoaciduria

A

Fanconi syndrome

42
Q

marked by elevated amounts of the amino acid cystine in the urine

A

Cystinuria

43
Q

Presence of increased urinary cystine is due to:

A. Inability of the renal tubules to reabsorb cystine filtered by the glomerulus
B. a defect in the metabolism of cystine
C. Because cystine is much less soluble than the other amino acids

A

A. Inability of the renal tubules to reabsorb cystine filtered by the glomerulus

44
Q

Term for increased urinary sugar due to an inherited disorder

A

Melituria

45
Q

Indicates the inability to properly metabolize galactose to glucose

A

Galactosuria

46
Q

Carbohydrate disorder that is associated with parenteral feeding and pentosuria with ingestion of large amounts of fruit

A

Fructosuria

47
Q

Carbohydrate disorder that may be seen during pregnancy and lactation

A

Lactosuria

48
Q

A disorder of purine metabolism inherited as a sex-linked recessive results in massive excretion of urinary uric acid crystals

A

Lesch-Nyhan disease

49
Q

a group of large compounds located primarily in the connective tissue. They consist of a protein core with numerous polysaccharide branches

A

Mucopolysaccharides or glycosaminoglycans

50
Q

Mucopolysaccharide disorders where the skeletal structure is abnormal and there is severe mental retardation

A

Hurler syndrome and Hunter syndrome

51
Q

Mucopolysaccharide disorder that is inherited as sex-linked recessive and is rarely seen in females

A

Hunter syndrome

52
Q

Mucopolysaccharide disorder where mucopolysaccharides accumulate in the cornea of the eye

A

Hurler syndrome

53
Q

Mucopolysaccharide disorder where the only abnormality is mental retardation.

A

Sanfilippo syndrome

54
Q

he intermediate compounds in the production of heme

A

Porphyrins

55
Q

Collective term for disorders of porphyrin metabolism

A

Porphyrias

56
Q

Two screening tests for porphyrinuria

A

Ehrlich reaction
Fluorescence under UV light (550-600nm)

57
Q

Screening test for porphyrinuria that is only for the detection of ALA and porphobilinogen

A

Ehrlich reaction

58
Q

Screening method for porphyria that does not distinguish among uroporphyrin, coproporphyrin, and protoporphyrin, but it rules out porphobilinogen and ALA.

A

Fluorescence method

59
Q

Defects in the metabolism of the amino acid methionine produce an increase in homocysteine throughout the body

A

Homocystinuria

60
Q

Cystine disorder that is a defect in the renal tubular transport of amino acids

A

Cystinuria

61
Q

Cystine disorder that is an inborn error of metabolism

A

Cystinosis

62
Q

Odor of urine of people with cystine disorders

A

Sulfur

a-u-b-f readings eeheh (3 decks)

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