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GCD 8917 > Quiz 3 > Flashcards

Quiz 3 Flashcards

1
Q

1% of SIDS is caused by

A

MCAD deficiency

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2
Q

Biochemical disorders may account for up to:

A

5% of SIDS

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3
Q

Medium-chain

acyl CoA dehydrogenase deficiency (MCAD) Inheritance

A

AutosomalRecessive disorder of fatty acid

oxidation

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4
Q

Definition of Metabolic Conditions

A

Affect Chemical reactions that occur within the cells of the body

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5
Q

What is the purpose of Metabolism?

A

Maintaining a constant source of energy for the body

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6
Q

What is the Fed/Fasting state?

A

Dietary fuel must be absorbed during meals and stored for use during fasting periods between meals

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7
Q

3 major mechanisms of Inborn errors of metabolism (IEM)?

A

1) Deficient activity of essential enzymes
2) Deficiencies of cofactors or activators of the enzymes
3) Faulty transport of compounds

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8
Q

Typical clinical finding of Inborn errors of metabolism (IEM)?

A

1) Type and toxicity of the metabolites (substrates) that accumulate
2) Deficiencies of products of the biochemical reactions that are impaired

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9
Q

How are inborn errors of metabolism (IEM) grouped?

A

1) By type of compounds involved
OR
2) Organelle that is effected

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10
Q

Which labs do you need for inborn errors of metabolism (IEM)?

A

1) Metabolic testing

2) Newborn screen

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11
Q

What Clinical history do you need for Inborn errors of metabolism (IEM)?

A

1) Food aversions/“allergies” & Eating habits
2) Lethargy or Diminished exercise tolerance
3) Muscle or nerve problems
4) Developmental history
5) Unusually weak during illnesses, or prolonged recovery
6) Unusual odors
7) Hypoglycemia

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12
Q

Signs of a metabolic condition in personal history

A

HUGE: REGRESSION

1) Catastrophic neonatal presentation
2) Liver disease/dysfunction
3) Neurologic symptoms or features, regression
4) Weakness/lethargy
5) Myopathy or cardiomyopathy
6) Dysmorphic features

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13
Q

What sings might you see in the history of someone with Urea cycle disorder?

A

A problem breaking down protein -> protein aversion

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14
Q

Why is Consanguinity important when assessing family history of Inborn errors of metabolism (IEM)?

A

Most are Recessive conditions so consanguinity is important

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15
Q

What to look for in family history of Inborn errors of metabolism (IEM)?

A

1) Consanguinity
2) Sudden unexpected death(s) at any age but especially childhood
3) Ethnicity
4) Sibling information (DOBs, state of birth)
5) Vision/hearing loss, developmental delay/ regression, seizures

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16
Q

Hardy Weinberg Equation

A

p2+2pq+q2=1

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17
Q

p2 represents

A

homozygous unaffected

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18
Q

2pq represents

A

heterozygous

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19
Q

q2 represents

A

homozygous affected

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20
Q

Acylcarnitine profile tests

A

Fatty Acid Oxidation disorders

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21
Q

Plasma amino acids tests

A

PKU for example - if pathway for phenylalanine breakdown is faulty, phenylalanine accumulates in the blood

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22
Q

Urine organic acids tests

A

Metabolite concentrating in urine if not breaking down

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23
Q

Lactate/pyruvate tests

A

Mitochondrial disease high a lot of the time

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24
Q

What is the mechanism of amino acid disorders?

A

A mutation in an enzyme that breaks down a specific amino acid

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25
Q

What class of disorder is PKU?

A

Amino acid disorder

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26
Q

Name some amino acid disorder examples

A

PKU, tyrosinemia, homocystinuria

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27
Q

Gene for PKU

A

PAH - phenylalanine hydroxylase

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28
Q

Inheritance of PKU

A

Autosomal recessive

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29
Q

Inheritance of amino acid disorders

A

Autosomal recessive

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30
Q

Common treatment for PKU

A

Kuvan

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31
Q

Limitation of Kuvan

A

Requires residual activity of Phenylalanine hydroxylase

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32
Q

What are Organic acidemias?

A

Disrupted amino acid metabolism, particularly branched-chain amino acids, causing a accumulation of acids

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33
Q

Inhertiance of organic acidemias

A

Autosomal recessive

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34
Q

Example of an organic acidemia disorder

A

Isovaleric acidemia (IVA)

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35
Q

What is not broken down in individuals with IVA?

A

Leucine

36
Q

What builds up in urine for IVA individuals?

A

Isovaleric acid

37
Q

Treatment for PKU?

A

Low-protein diet, eliminate phenylalanine, kuvan, formula

38
Q

Treatment for IVA?

A

Low protein diet, treatment with glycine, formula

39
Q

How does glycine treat IVA?

A

glycine augments conversion of isovaleric acid (IVA) to isovalerylglycine (IVG) through glycine-N-acylase

40
Q

What are the inheritance patterns of Urea cycle disorders?

A

Autosomal recessive and X linked

41
Q

What builds up in individuals with urea cycle disorders?

A

Ammonia

42
Q

Examples of urea cycle disorders

A

OTC deficiency

NAGS

CPS1 deficiency

43
Q

What is OTC?

A

Ornithine transcarbamylase (OTC) deficiency. OTC is 1 of 6 enzymes in urea cycle, which breaks down and removes nitrogen from the body

44
Q

What is NAGS?

A

N-acetylglutamate synthetase (NAGS) deficiency. NAGS is important in the urea cycle, which breaks down and removes nitrogen from the body

45
Q

What is CPS1?

A

Carbamoyl phosphate synthetase 1 deficiency. CPS is 1 of 6 enzymes in urea cycle, which breaks down and removes nitrogen from the body

46
Q

What is the inheritance pattern of OTC deficiency?

A

X-linked

47
Q

What is the treatment for OTC deficiency?

A

Low protein diet, ammonia scavengers, liver transplant, Ravicti

48
Q

How does Ravicti treat OTC?

A

Ravicti is converted to phenylacetate. Phenylacetate attaches to glutamine so that it can remove from the body. This removal of amino acids (glutamine in this case) decreases nitrogen in the body, reducing the amount of ammonia produced.

49
Q

What are the symptoms of OTC?

A

Buildup of ammonia causes neurotoxicity leading to episodes of delirium, erratic behavior, a reduced level of consciousness, headaches, vomiting, and seizures

50
Q

Can females exhibit symptoms of OTC?

A

Yes; often mild, like protein avoidance

51
Q

What is fatty acid oxidation?

A

breakdown of fatty acids to acetyl CoA; (fatty acids to energy in the mitochondria)

52
Q

Why are there different enzymes used for fatty acid oxidation?

A

Different size (or chain length) of fatty acids use different enzymes

53
Q

What is the inheritance pattern of fatty acid oxidation disorders?

A

Autosomal recessive

54
Q

What does MCAD stand for?

A

medium chain acyl-CoA dehydrogenase

55
Q

What is the gene that cods for MCAD?

A

ACADM

56
Q

Treatment for MCAD deficiency

A

Avoidance of fasting, low fat/high carb, overnight cornstarch

57
Q

Common mutations for MCAD deficiency

A

c.985A>G, c.199T>C

58
Q

What are the two “ways” to get a mitochondrial disease?

A

Mutations in mtDNA and mutations in nuclear DNA

59
Q

What are the inheritance patterns of mitochondrial diseases?

A

Pretty much everything; AR, AD, X linked, maternal (mitochondrial)

60
Q

What is an example of mitochondrial disease?

A

MELAS

61
Q

What are the symptoms of MELAS?

A

In the name; Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes

62
Q

What is the most common MELAS gene?

A

Mt-TL1 a t-RNA gene

63
Q

What happens in MELAS?

A

Mutation in t-RNA gene, MT-TL1 impair ability of mitochondria to make proteins, use oxygen, and produce energy

64
Q

Can red ragged fibers be used to diagnose mitochondrial disease later in life?

A

No; red ragged fibers can occur naturally with aging in healthy individuals

65
Q

Which category of metabolic conditions (so far) has progressive symptoms?

A

Lysosomal storage diseases

66
Q

What are Lysosomal storage diseases?

A

Defective lysosomal enzymes, cofactors or transport causes buildup of metabolites in lysosomes

67
Q

What is the inheritance of lysosomal storage diseases?

A

Autosomal recessive and X linked

68
Q

What is the treatment for lysosomal storage diseases?

A

enzyme replacement therapy

and Bone marrow transplant for MPS1

69
Q

Examples of lysosomal storage diseases

A

Tay Sachs

Mucopolysaccharidoses

Fabry disease

70
Q

What is Tay Sachs?

A

AR caused by mutations HEXA gene. HEXA codes for the alpha subunit of β-hexosaminidase A. Leads to accumulation of fats (lipids) known as gangliosides in lysosomes of brain and nerve cells.

71
Q

What are mucopolysachharidoses?

A

mucopolysaccharidoses caused by deficiency in enzymes that break down glycosaminoglycans (mucopolysaccharides) —long chains of sugars

72
Q

What is Fabry disease?

A

X-lnked disorder of glycosphingolipid (fat) metabolism resulting from the absent or markedly deficient activity of the lysosomal enzyme, α-galactosidase A (α-Gal A) leads to buildup of fat in lysosomes

73
Q

MPSI is also known as?

A

Mucopolysarcharidosis type I is also known as Hurler syndrome

74
Q

MPSII is also known as

A

Mucopolysarcharidosis type II is also known as Hunter syndrome

75
Q

What is a common mutation for Tay Sachs?

A

1278insTATC (infantile)

in HEXA gene

76
Q

What is the inheritance pattern of Fabry disease?

A

X linked

77
Q

What are the barriers to treating Fabry disease?

A

Cost, time, reactions

78
Q

What is the basic mechanism of biotinidase deficiency?

A

Mutated BTD gene, reduction in enzyme functionality that can’t free up biotin

79
Q

How is biotinidase treated?

A

Biotin

80
Q

What is the common partial, or mild, mutation for BTD?

A

D444H

81
Q

What is the inheritance pattern of biotinidase deficiency?

A

Autosomal recessive

82
Q

What genes are associated with galactosemia?

A

GALT

GALE

GALK1

83
Q

What is the inheritance pattern of Galactosemia?

A

Autosomal recessive

84
Q

What is the Duarte variant?

A

N314D; asymptomatic/mild phenotype (GALT)

85
Q

What is the most common mutation for classic galactosemia?

A

Q188R (GALT)

GCD 8917 (5 decks)

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