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Medical Genetics > Inborn errors > Flashcards

Inborn errors Flashcards

1
Q

what are inborn errors of metabolism

A

disorders from enzyme defects in biochemical pathways that affect fat, protein, and carb metabolism or impaired organelle functioning

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2
Q

T or F: inborn errors are individually rare but collectively common

A

true

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3
Q

what type of mutations are inborn errors

A

autosomal recessive

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4
Q

what do we use for fuel in the body?

A

carbs/sugars-fats- proteins

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5
Q

first source of nrg in an emergency?

A

sugar

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6
Q

what is dextrose?

A

type of sugar

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7
Q

what type of disorder is PKU?

A

disorder of amino acid metabolism

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8
Q

what enzyme do ppl with PKU lack?

A

phenyalanine hydroxylase

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9
Q

what type of inheritance pattern is in PKU

A

autosomal recessive

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10
Q

what type of build up is there in PKU

A

build up of phenylanaline because they cannot convert phenylalanine to tyrosine

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11
Q

first disorder screened for at birth?

A

PKU

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12
Q

clinical features of PKU?

A

musty/mousy odor, light facial features, eczema, microcephaly, seizures

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13
Q

what occurs early on in PKU

A

intellectual disability

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14
Q

what occurs later on in PKU

A

psychiactric/behavioral probs

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15
Q

trmt for PKU?

A

low protein diet, PKU formula, drugs

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16
Q

what is an insidious disease?

A

one that builds up over time

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17
Q

what is tyrosine needed for?

A

melanin production

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18
Q

ex of insidious disease?

A

PKU

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19
Q

what is galactosemia a disorder of

A

carb metabolism

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20
Q

what type of inheritance pattern is galactosemia

A

autosomal recessive

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21
Q

what enzyme is deficient in galactosemia

A

galactose 1 phosphate uridyltransferase

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22
Q

early presentation of galactosemia

A

feeding difficulty, failure to thrive, hepatomegaly, liver damage, sepsis

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23
Q

later presentation/chronic complications of galactosemia

A

speech delays, cataracts, ataxia, dec IQ, failure to thrive

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24
Q

trmt for galactosemia?

A

galactose/lactose restriction; cannot have breast or cows milk

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25
Q

what type of disorder is maple syrup urine disease (MSUD)

A

organic acidemia

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26
Q

what type of inheritance pattern is MSUD

A

autosomal recessive

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27
Q

what enzyme is deficient in MSUD

A

branched chain ketoacid dehydrogenase

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28
Q

what are the BCAA

A

leucine, isoleucine, and valine

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29
Q

clinical symptoms of MSUD 2-3 days after birth ?

A

irritability, dec. responsiveness, poor PO intake

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30
Q

what population is MSUD common in

A

mennonite

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31
Q

how does MSUD progress over time

A

asymptomatic at birth and progresses over the next 7 days

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32
Q

when do BCAA build up in MSUD

A

as early as 12 hours

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33
Q

when are ketones present in urine in MSUD

A

2-3 days after birth

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34
Q

clinical symptoms of MSUD 4-6 days after birth ?

A

encephalopathy, vomiting, posturing, lethargy, apnea, abnormal mvmts

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35
Q

when is there noticible maple syrup/sweet odor in someones urine with MSUD

A

4-6 days after birth

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36
Q

clinical symptoms of MSUD 7+ days after birth ?

A

cerebral edema, respiratory failure, coma, death

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37
Q

chronic complications of MSUD

A

developmental delay, failure to thrive, inc risk of neuropsychiatric diseases (like depression, anxiety, ADHD)

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38
Q

trmt for MSUD?

A

chronic: restrict BCAA (especially leucine) and liver transplant
acute: stop catabolic state

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39
Q

name some glycogen storage disorders

A

von gierke, pompe, cori, anderson, McArdle, Hers, Tauris

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40
Q

what type of inheritance pattern do ppl with glycogen storage disorders usually have

A

autosomal recessive

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41
Q

what is there an issue with in ppl with glycogen storage disorders

A

glycogen synthesis or breakdown

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42
Q

what type of metabolic disorder is pompes disease

A

glycogen storage type 2

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43
Q

what is glycogen

A

sugar reserve

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44
Q

name some variable features of glycogen storage disorders

A

hypoglycemia, hepatomegaly, hyperlipidemia, exercise intolerance, myopathy, cardiomyopathy, rhabdomyolysis, muscle cramping, growth delays, failure to thrive

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45
Q

what type of inheritance pattern is pompes disease

A

autosomal recessive

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46
Q

what enzyme is deficient in pompes disease

A

alpha glucosidase

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47
Q

what occurs in pompes

A

glycogen cant be broken down so it builds up in lysosomes of skeletal muscle, heart, and liver

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48
Q

clinical features of pompes in infants

A

hypertrophic cardiomyopathy, hypotonia, muscle weakness, failure to thrive, respiratory infections, normal cognition, death by 2 y/o

49
Q

clinical features of pompes late onset

A

progressive proximal muscle weakness, exercise intolerance, hepatomegaly, NO hypoglycemia

50
Q

trmt for pompes

A

enzyme replacement

51
Q

what disorder are ppl not able to rise from a chair

A

pompes (bc they dont have proximal muscle strength)

52
Q

what type of inheritance pattern is von gierke disease

A

autosomal recessive

53
Q

what type of metabolic disorder is von gierke disease

A

glycogen storage type 1

54
Q

what enzyme is deficient in von gierke disease

A

glucose 6 phosphatase

55
Q

where is there a build up of glycogen in von gierke disease

A

liver and kidney

56
Q

clinical features of von gierke disease

A

hepatomegaly, renomegaly, doll like face

57
Q

long term complications of von gierke disease

A

short stature, delayed puberty, osteoporosis, HTN, cognitive delay, neutropenia, inc risk of autoimmune disease

58
Q

what happens if someone with von gierke fasts for over 2-3 hours

A

hypoglycemia, lactic acidosis, hypoglycemic seizures

59
Q

trmt for von gierke disease?

A

small and frequent feeds, avoid/limit sucrose and lactose, soy based formulas, corn starch

60
Q

when is von gierke usually diagnosed

A

4 months bc thats when feeds are spaced out

61
Q

how are fatty acids metabolized

A

2 carbons at a time

62
Q

how are disorders of fatty acid oxidation named

A

based on lengths of carbon chain unable to be further oxidized

63
Q

what is acetyl coA needed for

A

ketone production

64
Q

what is MCAD

A

medium chain acetyl CoA dehydrogenase deficiency

65
Q

what type of inheritance pattern is MCAD

A

autosomal recessive

66
Q

what is the MC FAOD

A

MCAD

67
Q

what is there a build up of in MCAD

A

medium chain fatty acids (C8)

68
Q

clinical features of MCAD

A

hypoketotic hypoglycemia, mepatomegaly, delayed development, SIDS

69
Q

what may hypoketoic hypoglycemia cause in MCAD

A

seizures, lethargy, and coma

70
Q

why may you get delayed development in MCAD

A

can be due to multiple episodes of hypoglycemia

71
Q

trmt for MCAD

A

frequent feeds, cornstarch, lower fat diet

72
Q

why do we need the urea cycle

A

dispose of nitrogen wastes

73
Q

where does nitrogen come from

A

proteins

74
Q

what type of inheritance pattern are urea cycle defects

A

autosomal recessive; EXCEPT for OTC (ornithine transcarbamylase), that’s x linked

75
Q

MC urea cycle defect?

A

OTC deficiency (ornithine transcarbamylase)

76
Q

what is there a build up of in urea cycle defects

A

ammonia

77
Q

in urea cycle defects, who usually has higher ammonia levels

A

newborns

78
Q

what is a marker of hyperammonemia

A

glutamine

79
Q

what can occur acutely in urea cycle defects

A

hyperammonemia (VERY high levels), encephalopathy, respiratory alkalosis, lethargy, sepsis, vomiting, difficulty feeding, hypothermia

80
Q

what may encephalopathy appear like in urea cycle defects

A

cerebral edema and mimic sepsis with bulging fontanelle

81
Q

what can occur chronically in urea cycle defects

A

developmental delays

82
Q

trmt for urea cycle defects?

A

limit protein intake, supplement with arginine and citrulline

83
Q

what are nitrogen scavengers

A

sodium benzoate and sodium phenylbutyrate

84
Q

what is there a build up of in lysosomal storage disorders

A

unprocessed materials SLOWLY over time in the lysosome

85
Q

are the symptoms/features of lysosomal storage disorders there at birth or progressive

A

progressive; kids are normal at birth

86
Q

how are lysosomal storage disorders classified?

A

based on the type of molecule that builds up

87
Q

2 types of lysosomal storage disorders?

A

lipid disorders and mucopolysaccharide disorders

88
Q

what type of disorder is tay sachs disease

A

lysosomal storage disorder: lipid disorder (ganglioside 2)

89
Q

what type of mutation is in tay sachs and what is the inheritance pattern

A

autosomal recessive mutation in HEXA

90
Q

what enzyme are ppl with tay sachs deficient in

A

hexosaminidase A enzyme (HEXA)

91
Q

what population is tay sachs most common in

A

ashkenazi jews

92
Q

what do you get an accumulation of in tay sachs

A

ganglioside 2 (GM 2)

93
Q

clinical presentation of tay sachs birth-6 months

A

progressive motor weakness, myoclonic jerks, exaggerated startle response

94
Q

clinical presentation of tay sachs 6-10 months

A

cherry red macula, regression, dec. vision

95
Q

clinical presentation of tay sachs 10+ months

A

dec. mvmt and responsiveness, seizures, deterioration

96
Q

when do ppl with tay sachs usually die by

A

4 years old

97
Q

what type of inheritance is gauchers disease

A

autosomal recessive

98
Q

what enzyme is deficient in gauchers

A

glucerebrosidase

99
Q

what population is gauchers MC in

A

ashkenazi jews

100
Q

clinical features of gauchers

A

hepatosplenomegaly, anemia, thrombocytopenia, leukopenia, bone disease, bone crises, pseudo-osteomyelitis

101
Q

what are the two types of gauchers disease

A

neurological and non neurological involvement

102
Q

what is mucopolysaccharidoses (MPS) 1 called

A

hurler syndrome

103
Q

what inheritance pattern is MSP 1/hurler?

A

autosomal recessive

104
Q

what is mucopolysaccharidoses (MPS) 2 called

A

hunter syndrome

105
Q

what inheritance pattern is MSP 2/hunter?

A

x linked recessive

106
Q

what MSP syndrome is there corneal clouding

A

MSP 1/hurler

107
Q

clinical features of MSP disorders

A

coarse facial features, umbilical hernia, growth delay, intellectual disability, dysostosis multiplex (bony abnormalities), hepatosplenomegaly, valvular disease, cardiomyopathy, intellectual disability, protuberant abdomen

108
Q

trmt for MSP disorders

A

enzyme replacement therapy, bone marrow transplant

109
Q

what type of disorder is Lesch-Nyhan

A

disorder of purine (A-G) metabolism

110
Q

what type of inheritance pattern is Lesch Nyhan

A

x linked recessive

111
Q

what enzyme is there a deficiency in lesch nyhan

A

HGPRT 1

112
Q

is Lesch-Nyhan an inborn error of metabolism

A

no

113
Q

clinical features of les nyhan syndrome

A

motor disturbances, abnormal mvmts, cognitive impairments, behavioral abnormalities, injurious self behavior (head banging and biting fingers), macrocytic anemia, seizures, hyperuricemia

114
Q

clinical symptoms of hyperuricemia

A

gout, orange crystals in diaper, kidney stones

115
Q

who is MPS more common in: boys or girls

A

boys

116
Q

do the symptoms for MPS come on acutely or are they progressive?

A

progressive: happen SLOW over time

117
Q

is Lesch-Nyhan more common in boys or girls

A

boys bc its x linked

118
Q

what is MTHFR

A

a gene commercially marketed to cause a variety of different disease processes including CV disease, cancer, preganancy loss, and thrombosis

119
Q

what does MTHFR stand for and what is it involved in

A

methylenetetrafolate reductase which is involved in folate metabolism

Medical Genetics (15 decks)

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