Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

GCD 8917 > Quiz 3 > Flashcards

Quiz 3 Flashcards

(85 cards)

Start Studying
1
Q

1% of SIDS is caused by

A

MCAD deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Biochemical disorders may account for up to:

A

5% of SIDS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Medium-chain

acyl CoA dehydrogenase deficiency (MCAD) Inheritance

A

AutosomalRecessive disorder of fatty acid

oxidation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Definition of Metabolic Conditions

A

Affect Chemical reactions that occur within the cells of the body

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What is the purpose of Metabolism?

A

Maintaining a constant source of energy for the body

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

How are inborn errors of metabolism (IEM) grouped?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

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

A

1) Metabolic testing

2) Newborn screen

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

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

A

A problem breaking down protein -> protein aversion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Hardy Weinberg Equation

A

p2+2pq+q2=1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

p2 represents

A

homozygous unaffected

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

2pq represents

A

heterozygous

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

q2 represents

A

homozygous affected

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Acylcarnitine profile tests

A

Fatty Acid Oxidation disorders

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Plasma amino acids tests

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Urine organic acids tests

A

Metabolite concentrating in urine if not breaking down

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Lactate/pyruvate tests

A

Mitochondrial disease high a lot of the time

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What is the mechanism of amino acid disorders?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
What class of disorder is PKU?
Amino acid disorder
26
Name some amino acid disorder examples
PKU, tyrosinemia, homocystinuria
27
Gene for PKU
PAH - phenylalanine hydroxylase
28
Inheritance of PKU
Autosomal recessive
29
Inheritance of amino acid disorders
Autosomal recessive
30
Common treatment for PKU
Kuvan
31
Limitation of Kuvan
Requires residual activity of Phenylalanine hydroxylase
32
What are Organic acidemias?
Disrupted amino acid metabolism, particularly branched-chain amino acids, causing a accumulation of acids
33
Inhertiance of organic acidemias
Autosomal recessive
34
Example of an organic acidemia disorder
Isovaleric acidemia (IVA)
35
What is not broken down in individuals with IVA?
Leucine
36
What builds up in urine for IVA individuals?
Isovaleric acid
37
Treatment for PKU?
Low-protein diet, eliminate phenylalanine, kuvan, formula
38
Treatment for IVA?
Low protein diet, treatment with glycine, formula
39
How does glycine treat IVA?
glycine augments conversion of isovaleric acid (IVA) to isovalerylglycine (IVG) through glycine-N-acylase
40
What are the inheritance patterns of Urea cycle disorders?
Autosomal recessive and X linked
41
What builds up in individuals with urea cycle disorders?
Ammonia
42
Examples of urea cycle disorders
OTC deficiency NAGS CPS1 deficiency
43
What is OTC?
Ornithine transcarbamylase (OTC) deficiency. OTC is 1 of 6 enzymes in urea cycle, which breaks down and removes nitrogen from the body
44
What is NAGS?
N-acetylglutamate synthetase (NAGS) deficiency. NAGS is important in the urea cycle, which breaks down and removes nitrogen from the body
45
What is CPS1?
Carbamoyl phosphate synthetase 1 deficiency. CPS is 1 of 6 enzymes in urea cycle, which breaks down and removes nitrogen from the body
46
What is the inheritance pattern of OTC deficiency?
X-linked
47
What is the treatment for OTC deficiency?
Low protein diet, ammonia scavengers, liver transplant, Ravicti
48
How does Ravicti treat OTC?
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
What are the symptoms of OTC?
Buildup of ammonia causes neurotoxicity leading to episodes of delirium, erratic behavior, a reduced level of consciousness, headaches, vomiting, and seizures
50
Can females exhibit symptoms of OTC?
Yes; often mild, like protein avoidance
51
What is fatty acid oxidation?
breakdown of fatty acids to acetyl CoA; (fatty acids to energy in the mitochondria)
52
Why are there different enzymes used for fatty acid oxidation?
Different size (or chain length) of fatty acids use different enzymes
53
What is the inheritance pattern of fatty acid oxidation disorders?
Autosomal recessive
54
What does MCAD stand for?
medium chain acyl-CoA dehydrogenase
55
What is the gene that cods for MCAD?
ACADM
56
Treatment for MCAD deficiency
Avoidance of fasting, low fat/high carb, overnight cornstarch
57
Common mutations for MCAD deficiency
c.985A>G, c.199T>C
58
What are the two "ways" to get a mitochondrial disease?
Mutations in mtDNA and mutations in nuclear DNA
59
What are the inheritance patterns of mitochondrial diseases?
Pretty much everything; AR, AD, X linked, maternal (mitochondrial)
60
What is an example of mitochondrial disease?
MELAS
61
What are the symptoms of MELAS?
In the name; Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
62
What is the most common MELAS gene?
Mt-TL1 a t-RNA gene
63
What happens in MELAS?
Mutation in t-RNA gene, MT-TL1 impair ability of mitochondria to make proteins, use oxygen, and produce energy
64
Can red ragged fibers be used to diagnose mitochondrial disease later in life?
No; red ragged fibers can occur naturally with aging in healthy individuals
65
Which category of metabolic conditions (so far) has progressive symptoms?
Lysosomal storage diseases
66
What are Lysosomal storage diseases?
Defective lysosomal enzymes, cofactors or transport causes buildup of metabolites in lysosomes
67
What is the inheritance of lysosomal storage diseases?
Autosomal recessive and X linked
68
What is the treatment for lysosomal storage diseases?
enzyme replacement therapy | and Bone marrow transplant for MPS1
69
Examples of lysosomal storage diseases
Tay Sachs Mucopolysaccharidoses Fabry disease
70
What is Tay Sachs?
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
What are mucopolysachharidoses?
mucopolysaccharidoses caused by deficiency in enzymes that break down glycosaminoglycans (mucopolysaccharides) —long chains of sugars
72
What is Fabry disease?
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
MPSI is also known as?
Mucopolysarcharidosis type I is also known as Hurler syndrome
74
MPSII is also known as
Mucopolysarcharidosis type II is also known as Hunter syndrome
75
What is a common mutation for Tay Sachs?
1278insTATC (infantile) | in HEXA gene
76
What is the inheritance pattern of Fabry disease?
X linked
77
What are the barriers to treating Fabry disease?
Cost, time, reactions
78
What is the basic mechanism of biotinidase deficiency?
Mutated BTD gene, reduction in enzyme functionality that can't free up biotin
79
How is biotinidase treated?
Biotin
80
What is the common partial, or mild, mutation for BTD?
D444H
81
What is the inheritance pattern of biotinidase deficiency?
Autosomal recessive
82
What genes are associated with galactosemia?
GALT GALE GALK1
83
What is the inheritance pattern of Galactosemia?
Autosomal recessive
84
What is the Duarte variant?
N314D; asymptomatic/mild phenotype (GALT)
85
What is the most common mutation for classic galactosemia?
Q188R (GALT)

GCD 8917 (5 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions