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PPS - From Nelson's > Metabolism > Flashcards

Metabolism Flashcards

1
Q

Disorders presenting as hypoglycemia

A

Medium-chain and long chain fatty acid oxidation defects
Glycogen storage disease
Ketone utilization
Galactosemia

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2
Q

Disorders presenting as encephalopathy

A

Propionic acidemia, methymalonic acidemia,other organic acidemias
Msud
Pku
Urea cycle defect

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3
Q

Deficiency in pku

A

Tyrosine

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4
Q

Toxic metabolite in pku

A

Phenylalanine

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5
Q

Toxic metabolite in msud

A

Leucine

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6
Q

In PKU there is Impairment of ____ metabolism leading to ___ deficiency

A

Tryptophan

serotonin

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7
Q

accumulation of glycogen is stimulated by

A

insulin

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8
Q

glucose 1-phosphate is converted to glucose 6-phosphate in the

A

Liver and kidneys

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9
Q

glycogen storage diseases are characterized by

A

hypoglycemia

hepatomegaly

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10
Q

Diseases that predominantly affect the liver and have a direct influence on blood glucose

A

types I, VI, and VIII
von gierke 1
hers 6

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11
Q

Diseases that predominantly involve muscles and affect the ability to do anaerobic work

A

types V and VII
mcArdle 5
tarui 7

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12
Q

Diseases that can affect the liver and muscles and directly influence blood glucose and muscle metabolism

A

type III

forbes 3

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13
Q

Diseases that affect various tissues but have no direct effect on blood glucose or on the ability to do anaerobic work

A

types II and IV
pompe 2
anderson 4

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14
Q

von gierke affected enzyme

A

glucose 6 phosphatase

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15
Q

von gierke affected organs

A

liver
kidney
GI
platelet

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16
Q

pompe affected enzyme

A

lysosomal A glucosidase

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17
Q

pompe affected organs

A

all
striated muscle
nerves

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18
Q

deficiency in galactosemia

A

galactose 1 phosphate uridyltransferase

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19
Q 
autosomal recessive
neonate with:
liver failure (hyperbil, coagulopathy, hypoglycemia)
 renal tubular dysfxn (acidosis, aminociduria), cataract
A

galactosemia

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20
Q

infants with galactosemia at risk for

A

e coli sepsis

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21
Q

acid base disorder in galactosemia

A

NAGMA hyperchloremic metabolic acidosis

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22
Q

classic pku

A

phenylalanine unable to form/hydroxylation tyrosine

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23
Q

enzyme deficient in tyrosinemia I

A

fumarylacetoacetate hydrolase

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24
Q

enzyme deficient in homocystinuria

A

cystathione b synthase

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25
Q 
autosomal recessive
dislocated ocular lens
long slender extremities
malar flushing
livedo reticularis
arachnodactyly
scoliosus
pectus
mental retardation
psych problem
thromboses
A

homocystinuria

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26
Q

tx of homocystinuria

A

pyridoxine

plus folate
methionine restriction
cystine supplementation

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27
Q

branched chain amino acids involved in msud

A

leucine
isoleucine
valine

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28
Q

ornithine carbamoyltransferase deficiency results in low

A

low citrulline and arginine

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29
Q

ammonia can be eliminated by

A

hemodialysis (NOT peritoneal)
sodium benzoate
sodium phenylacetate

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30
Q

pellagra like symptoms

amino acid in urine

A

hartnup

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31
Q

treatment of hartnup

A

add tryptophan

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32
Q

propionic and methylmalonic acidemia produce

A

ketosis and hyperglycemia

33
Q

treatment of propionic and methylmalonic acidemia

A

vit b12 cobalamin

34
Q

sweaty feat odor

A

idovaleric acidemia

glutaric acidemia

35
Q

macrocephaly
metabolic stroke like episodes (basal ganglia)
dystonia
autosomal recessive

A

glutaric acidemia

36
Q

most common error in beta oxidation in fat

A

medium chain acyl CoA dehydrogenase deficiency

37
Q

presentation of fatty acid oxidation disorder

A

hypoketotic hypoglycemia

38
Q 
autosomal recessive
absent peroxisome
high forehead, flat orbital ridges, wide fontanells
hepatomegaly
hypotonia
failure to thrive
seizure
death by 1 yr old
A

zellweger syndrome

39
Q

alpha L iduronidase deficiency
cloudy cornea
hepatosplenomegaly
mental retardation

A

hurler

MPS I

40
Q 
iduronate 2 sulfatase deficiency
clear cornea
hepatosplenomegaly
mental retardation
retinal degeneration, papilledema
x linked
A

hunter

MPS II

41
Q

heparan sulfate deficiency
clear cornea
mental retardation
may have hepatosplenomegaly

A

san filippo

MPS III

42
Q

galactose 6 sulfatase deficiency
beta galactosidase deficiency
faint clouding cornea
normal CNS

A

morquiro

MPS IV

43
Q

deficient in gaucher

A

glucocerebrosidase

44
Q

deficient in niemann pick

A

sphingomyelinase

45
Q

deficient in tay sachs

A

hexosaminidase

46
Q

deficienct in fabry

A

alpha galatosidase

cerebrosidase

47
Q

deficient in krabbe (galactosyl-ceramide lipodosis)

A

galactocerebroside

beta galactosidase

48
Q

cherry red spot in retina

A

niemann pick

tay sachs

49
Q

foam cells and sea blue histiocytes in marrow

A

niemann pick

50
Q

muscle biopsy finding in mitochondrial disorders

A

ragged red fibers

51
Q

urine odor:

swimming pool

A

hawkisinuria

52
Q

urine odor:

cat urine

A

3 hydroxy 3 methylglutaric aciduria

53
Q

urine odor:

maple syrup

A

msud

54
Q

urine odor:

boiled cabbage

A

hypermethioninemia

55
Q

urine odor:

tomcat urine

A

multiple carboxylase deficiency

56
Q

urine odor:

hops like

A

oasthouse urine disease

57
Q

urine odor:

mousey or musty

A

phenylketonuria

58
Q

urine odor:

rotting fish

A

trimethylaminuria

59
Q

urine odor:

boiled cabbage/ rancid butter

A

tyrosinemia

60
Q

impaired degradation of ___ closely associated to mental retardation

A

heparin sulfate

61
Q

most common mucupolysaccharidosis

A

MPS III san filippo

62
Q

impaired degradation of _ , __ , __ prone to mesenchymal abnormalities

A

dermatan sulfate
chondroitin sulfate
keratin sulfate

63
Q

stem cell transplantation results in significant improvement in __ MPS

A

mps I, II, VI
hurler 1
hunter 2
Maroteaux-Lamy 6

64
Q

enzyme replacement for ___ MPS

A

mps I, II, VI
hurler 1
hunter 2
Maroteaux-Lamy 6

65
Q

skeletal dysplasia in MPS

A

dysostosis multiplex

66
Q

early xray findings in huler

A

thick ribs

ovoid vertebral bodies

67
Q

purines recovered from __

A

uric acid

68
Q

pyrimidines recovered from __

A

citric acid cycle

69
Q

in de novo pathway,

purines produced from _

A

ribose 5 phosphate

70
Q

in de novo pathway,

pyrimidines produced from _

A

carbamoyl phosphate

71
Q

Hypoxanthine-guanine phosphoribosyltransferase deficiency HGPRT
x linked

A

Lesch nyhan

72
Q

xanthine oxidase inhibitor

A

allopurinol

73
Q

increase uric acid clearance

A

probenecid

74
Q

Hypoxanthine-guanine phosphoribosyltransferase HGPRT highest concentration in

A

basal ganglia

75
Q

hyperuricemia
intellectual disability
choreoathetosis
spasticity

A

lesch nyhan

76
Q

counter regulatory hormones to insulin

A

epinephrine
glucagon
GH
cortisol

77
Q

most common cause of persistent hypoglycemia in early infancy

A

hyperinsulinism

78
Q

most common form of childhood hypoglycemia

A

ketotic hypoglycemia

79
Q

peroxisomal fatty acid beta oxidation which results in the accumulation of very long chain fatty acids in tissues throughout the body

x linked

A

Adrenoleukodystrophy

PPS - From Nelson's (24 decks)

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