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Clinical medicine A > Met disroders > Flashcards

Met disroders Flashcards

1
Q

Toxic accumulation of Fructose-1-phosphate in the Liver, Kidney and SI, causing cell death.

A

adolase B deficiency hereditary fructose intolerance

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2
Q

chromosome 12 problem

A

PKU

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3
Q

unusually light hair and skin when left untreted

A

PKU

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4
Q

elevated plasma phenyalinine

A

PKU

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5
Q

avoid aspartame

A

PKU

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6
Q

neuro dysfunction due to loss of myelin

A

PKU

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7
Q

inceased RBC - galactose 1 phostphate

A

GALT deficiency

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8
Q

saproprotein

A

PKU tx in children and adults

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9
Q

pegvaliase

A

PKU tx in adults only

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10
Q

Autosomal recessive disorder with a deficiency in the enzyme that breaks down BCAAs.

A

maple syrup disease

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11
Q

Leucine, isoleucine and valine

A

BCAA affected in maple syrup urine disease

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12
Q

BCKDC deficiency

A

maple syrup disease MC enzyme deficiency

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13
Q

excess of this BCAA causes neuro symptoms

A

leucine

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14
Q

excess of this BCAA causes maple syrup like odor (burn caramel)

A

isoleucine

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15
Q

tx:
switch to soy products
stop breastfeeding
avoid dairy/milk

A

galactosemia (GALT, GALK, GALE def)

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16
Q

deficiency in PAH

A

PKU

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17
Q

converts phenylalanine to tyrosine

A

PAH phenyalanine hydroxylase

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18
Q

long term management includes yearly CBC, LFT, and opthamologic exams. as well as FSH, LH and estradiol for females.

A

galactosemia (GALT, GALK, GALE)
also would obtain RBC galactose-1-phosphate

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19
Q

tx is complete avoidance of fructose AND sucrose

A

adolase B deficiency (hereditary fructose intolerance)

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20
Q

3-30% residual enzyme deficiency of BCKDC

A

nonclassic Maple syrup urine disease

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21
Q

<3% residual enzyme deficiency of BCKDC

A

classic Maple syrup urine disease

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22
Q

presents with irritability, poor feeding, seizures, cerebral edema and death

A

classic maple syrup urine disease

s/s present within 48 hrs - 2 week

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23
Q

delayed onset until childhood but exacerbated by physical stress. epigastric pain, comiting, hyperactivity, sleep disturbance

A

nonclassic maple syrup urine disease

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24
Q

managed with strict protein restriction
trials of thiamine

A

Maple syrup urine disease

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25
Q

when would you do hemodialysis with discontinued protein intake for 24-48 hours

A

metabolic decomponsation in maple syrup urine disease
also would give glucose for calories and insulin to control BG

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26
Q

liver transplant

A

indicated as last resort for classic MSUD

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27
Q

Dysfunction of methionine formation , which results in a buildup of homocysteine.

A

homocystinuria

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28
Q

enzyme deficiency is cystathionine beta synthesis

A

homocystinuria

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29
Q

dislocated optic disks and mental retardation

A

homocytinuria MC presentation

also presents w
marfanoid habitus
pes excavatum, carinatum or genu valgum

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30
Q

pes excavatum, carinatum or genu valgum

A

homocytinuria
also presents w
marfanoid habitus
dislocated optic disks and mental retardation

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31
Q

elevated homocysteine and methionine in plasma/urine

A

homocystinuria

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32
Q

Betaine

A

helps convert homocysteine to methionine in homocystinuria

can also use B6, 12 and folate supplement
protein restriciton too

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33
Q

vitamin B6, B2 and folate supplementation as tx

A

homocytinuria
with protein restriction
can also use betaine

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34
Q

mutation in Hex A

A

Tay-Sachs

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35
Q

Breakdown of GM2 ganglioside done by which enzyme

A

Hex A therefore this is dealing with Tay-Sachs

Dysfunction results in a buildup of this, resulting in neuronal destruction in the CNS.

36
Q

exaggerated startle/moro reflex

A

tay sachs

37
Q

cherry red spot on fundoscopy

A

tay sachs

38
Q

death in children is often of pneumonia complications

A

Tay Sachs
d/t diaphragm and muscle weakness

39
Q

frequent respiratory infectoinsm behavioral problems and slow loss of motor/mental function

A

juvenile tay sachs (presents between 2-5)

40
Q

patient presents with extensive hx of injuries due to falls in childhood, reports she was a “clumsy child” which worsened as she aged. she now reports onset of difficulty speaking (dysarthria) onset about a year ago that has worsened. she also has an extensive mental health hx. what is it.

A

adult onset Tay Sahcs
clumsy child
motor weakness in adolescence
dysarthrai in adulthood
mental health symptoms

41
Q

Glucocerebrosidase (GCase) deficiency

A

Gaucher disease

42
Q

breaks down its fatty chemical into glucose and ceramide (lipid/fat molecule)

A

Glucocerebrosidase (GCase)

43
Q

bone fibrosis, osteopenia, HSM
no CNS involvement
slow progression
normal life span

A

Gaucher disease type 1

44
Q

All patients with this disease present with bone crisis

A

gaucher disease

45
Q

Low beta-glucosidase leukocyte activity is diagnostic for what

A

gaucher

46
Q

wrinkled tissue paper appearance of macrophages

A

gauchers disease resulting from GCase deficiency which increases macrophages

47
Q

Substrate-reduction therapy (SRT) with eliglustat/miglustat

A

Gaucher disease
also use enzyme replacement therapy with recombinant GCase

48
Q

Alpha galactosidase A (GLA) deficiency

A

Fabry dissease

49
Q

accumulation of globotriaosylceramide (GL3), fatty substance in blood vessels.

A

Fabry ddisease due to alpha galactosidase A deficiency

50
Q

enzyme replacement therapy with imiglucerase

A

Frabry disease

51
Q

narrows blood vessels leading to inadequate oxygen to tissues

A

fabry disease

creates problesm with skin, kidneys, CNS and heart

52
Q

angiokeratomas

A

Fabry disease

53
Q

punctate dark red to blue black or flat or slightly raised lesions that are usually symmetric.
DO NOT BLANCH
MC in bathing suit area

A

angiokeratomas

54
Q

hypo/anhidrosis and corneal lens opacity

A

fabry disease

55
Q

decreased GLA enzyme activity as diagnostic, confirmed w genetic testing

A

Fabry

56
Q

agalsidase beta (fabrazyme)

A

cornerstone of treatment for fabry disease

57
Q

migalastat (galafold)

A

chaperone therapy for ADULTS with fabry disease

58
Q

deficiency of sphingomyelinase (ASM) leading to accumulation of sphingomyelin in macrophages

A

Niemann Pick disease

59
Q

Peripheral smear showing “foam” cells with a soap sud appearance

A

Neimann pick disease

60
Q

a 5 mo old female presents with spasticity, failure to thrive and HSM. She also shows signs of lung disease such as hypoxemia and infiltrates on cxray. what are you considering as Dx

A

Niemann Pick A disease

61
Q

Progressive HSM.
Alveoli and pulmonary arteries show presents of foam cells.
infiltrative lung disease also presnt

A

Niemann Pick B disease

62
Q

neurologic disease that starts out as clumsiness, progresses to ataxia, dysphagia, dystonia, seizures. Death usually due to aspiration pneumonia

A

Niemann Pick C disease

63
Q

supportive care only as tx:
feeding tubes
oxygen
blood transfusions
physical/occupational therapy

A

neimann Pick disease

64
Q

Monitor:
Platelets, LFT, PFT, CXR, Lipids and bone density

A

neimann pick disease

65
Q

deficiency in Acid alfa glucosidase (GAA) causing inability to break down glycogen into glucose for energy

A

pompe disease

66
Q

lysosome disease that also classifies as glycogen storage disease

A

Pompe disease

67
Q

mutation on chromosome 17

A

Pompe disease

68
Q

onset with a few months of birth causing hypotonia, cardiomyopathy, HSM
death before age 1

A

classic infantile pompe disease

69
Q

onset 12 months after birth
delayed motor skills, resp dysfunction, cardiomegaly w/o HF

A

non classic infantile pompe disease

70
Q

slow progressive muslce weakness that leads to respiratory failure at an older age

A

late onset pompe disease

71
Q

acid alpha glucosidase enzyme levels decreased

A

pompe disease

72
Q

can be confirmed with prenatal diagnosis of analysis, amniocentesis or CV sampling

A

pompe disease

73
Q

phosphate absorption and excretion depends on the presence of what vitamin and what hormone

A

vit D
PTH

74
Q

causes of hyperphosphatemia

A

MC - CKD
hypoparathyroid
Vit D intoxication
genetic tumoral calcinosis
rhabdomyolisis and tumor lysis

75
Q

calcium acetate

A

hyperphosphatemia

76
Q

ianthanum carbonate

A

hyperphosphatemia in ESRD

77
Q

sevelamer

A

hyperphosphatemia in ESRD on dialysis

78
Q

used for energy transfer, storage and use.
as well as fat/protein metabolism

A

mangesium

79
Q

a disorder resulting in bone remodeling that typically begins with excessive bone resportion followed by increased bone formation

A

paget disease

80
Q

oseto clast

A

Cut down

81
Q

osteoblast

A

build up

82
Q

weaker, larger, less compact and more vascular bones

A

paget disease

83
Q

bone pain that is worse at night with bone deformity and excessive warmth

A

paget disease

also seen w neurologic complications d/t bone compression of neuro sites

84
Q

increased alkaline phosphatase and bone specific alkaline phosphatase

A

paget disease

85
Q

lytic lesions on Xray

A

early and late onset paget disease.
late will also show excessive bone formations

86
Q

what is used to determine extent of pagent disease

A

radionucleotide scan

87
Q

treated w alendronate, ibandronate, risedronate

A

these are bisphosphonates so this is paget disease

also use ca and vit D supplement

Clinical medicine A (32 decks)

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