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My step 1 mnemonics > Biochemistry - Nutrition and Metabolism 2 > Flashcards

Biochemistry - Nutrition and Metabolism 2 Flashcards

1
Q

Hyperammonemia Treatment:

A

limit protein in the diet.
May be given to dec ammonia levels:

  • Lactulose to acidify GI tract and trap NH4 + for excretion.
  • Antibiotics (eg, rifaximin, neomycin) to kill ammoniagenic bacteria.
  • Benzoate, phenylacetate, or phenylbutyrate react with glycine or glutamine, forming products that are excreted renally.
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2
Q

Hyperammonemia metabolic effects

A

NH3+ depletes glutamate in the CNS

inhibits the TCA cycle ( dec. a-ketoglutarate).

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3
Q

Arginine used to synthesize:

A

Creatine
Urea
Nitric oxide
(creat ur No)

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4
Q

Catecholamine synthesis/tyrosine catabolism

A

Phenylalanine - tyrosine - DOPA -Dopamine - Norepinephrine - Epinephrine

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5
Q

Catecholamine synthesis/tyrosine catabolism:

Phenylalanine and tyrosine both use…

A

hydroxylase and BH4

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6
Q

DOPA to Dopamine needs

A

dopa decarboxylase and B6

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7
Q

Dopamine to Norepinephrine needs…

A

dopamine beta-hydroxylase and vit C

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8
Q

Norepinephrine to Epinephrine needs…

A

Phenylethanolamine-N-methyltransferase and SAM

Induced by cortisol

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9
Q

Norepinephrine and Epinephrine metabolized to and by…

A

Vaniltymandelic acid

COMT

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10
Q

Dopamine metabolized to

A

Homovanillic acid

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11
Q

Homocystinuria Caused by:

A
  1. Cystathionine synthase deficiency
  2. dec. affinity of cystathionine synthase for pyridoxal phosphate
  3. Methionine synthase (homocysteine methyltransferase) deficiency
  4. Methylenetetrahydrofolate reductase (MTHFR) deficiency
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12
Q

Cystathionine synthase deficiency tx

A

dec. methionine, inc. cysteine, inc. B6, B12, and folate in diet)

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13
Q

dec. affinity of cystathionine synthase for pyridoxal phosphate tx

A

inc. substantially B6 and inc. cysteine in diet

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14
Q

Methionine synthase (homocysteine methyltransferase) deficiency tx

A

inc. methionine in diet

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15
Q

Methylenetetrahydrofolate reductase (MTHFR) deficiency tx

A

folate in diet

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16
Q

Homocystinuria presentation

A

All forms result in excess homocysteine.
H - HOMOCYstinuria: homocysteine in urine
O - Osteoporosis
M - Marfanoid habitus,
O - Ocular changes (downward and inward lens subluxation)
C - Cardiovascular effects (thrombosis and atherosclerosis - stroke and Ml)
Y - kYphosis

I - intellectual disability
F - fair complexion.

In homocystinuria, lens subluxated “down and in” (vs Marfan, “up and fans out”).

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17
Q

Propionic acidemia - Findings:

A

Findings:

vomiting (vomit pathway)

S - seizures
H - hepatomegaly
A - acidosis (anion gap metabolic)
F - feeding (poor)
T -hypoTonia
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18
Q

Von Gierke disease

(type I) sx

A

Severe fasting hypoglycemia

inc. Glycogen in liver and kidneys - hepatomegaly, renomegaly

Inc. blood lactate
inc. triglycerides
Inc. uric acid (Gout),

The liver does not regulate blood glucose.

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19
Q

Tay-Sachs disease findings

A 
R - hyperReflexia
A - hyperAcusis
N - Neurodegeneration (Progressive)
D - developmental delay
O - onion skin lysosomes
M - macula has  a "cherry-red" spot

No hepatosplenomegaly (vs Niemann-Pick).

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20
Q

Tay-Sachs disease:
DEFICIENT ENZYME
ACCUMULATED SUBSTRATE

A

HeXosaminidase A

GM2 ganglioside

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21
Q

Fabry disease findings

A

XR!
Early: the triad of episodic peripheral neuropathy, angiokeratomas, hypohidrosis.
Late: progressive renal failure, cardiovascular disease.

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22
Q

Fabry disease
DEFICIENT ENZYME
ACCUMULATED SUBSTRATE

A

alfa -galactosidase A

Ceramide trihexoside (globotriaosylceramide)

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23
Q

Metachromatic
leukodystrophy
DEFICIENT ENZYME
ACCUMULATED SUBSTRATE

A

Arylsulfatase A

Cerebroside sulfate

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24
Q

Krabbe disease
DEFICIENT ENZYME
ACCUMULATED SUBSTRATE

A

Galacto-cerebrosidase (galactosyl-ceramidase)

Galactocerebroside, psychosine

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25
Q

Gaucher disease
DEFICIENT ENZYME
ACCUMULATED SUBSTRATE

A

Glucocerebrosidase (beta-glucosidase); treat with recombinant glucocerebrosidase.

Glucocerebroside

26
Q

Niemann-Pick disease
DEFICIENT ENZYME
ACCUMULATED SUBSTRATE

A

Sphingomyelinase

Sphingomyelin

27
Q

Hurler syndrome
DEFICIENT ENZYME
ACCUMULATED SUBSTRATE

A

a -L-iduronidase

Heparan sulfate,
dermatan sulfate

28
Q

Hunter syndrome
DEFICIENT ENZYME
ACCUMULATED SUBSTRATE

A

Iduronate-2-sulfatase

Heparan sulfate,
dermatan sulfate

XR!

29
Q

Metachromatic leukodystrophy - FINDINGS

A

Demyelination (central and peripheral)

Ataxia

Dementia.

30
Q

Krabbe disease FINDINGS

A

N - Neuropathy (Peripheral)
O - oligodendrocytes destruction

D - developmental delay
O - optic atrophy
G - globoid cell

31
Q

Gaucher disease FINDINGS

A

Most common: PHONe Booth with tissue paper

P - pancytopenia
H - Hepatosplenomegaly 
O - osteoporosis
N - necrosis (avascular,  of the femur)
e

Booth - bone crises

Gaucher cells (lipid-laden macrophages resembling crumpled tissue paper).

32
Q

Niemann-Pick disease FINDINGS

A

Progressive neurodegeneration, hepatosplenomegaly, foam cells (lipid-laden macrophages) “cherry-red” spot on macula.

33
Q

Hurler syndrome FINDINGS

A 
C - corneal clouding
H - hepatosplenomegaly
AR- AiRway obstruction
G - gargoylism
e
D - Developmental delay
34
Q

Hunter syndrome FINDINGS

A

Mild Hurler + aggressive behavior, no corneal clouding.

“aggressive hunter needs to see the X”

35
Q

Systemic 1° carnitine deficiency-

A

inherited defect in the transport of LCFAs into the mitochondria - toxic accumulation.

It causes:
weakness
hypotonia
hypoketotic hypoglycemia.

36
Q

Medium-chain acyl-CoA dehydrogenase

deficiency- Pathophysiology

A

Dec. ability to break down fatty acids into acetyl-CoA - accumulation of fatty acylcarnitines in the blood.

Treat by avoiding fasting.

37
Q

Familial dyslipidemias pathogenesis

A

1LP (or C II), 2 LD (or apoB 100), 3 with no E , 4 gets more (VLDL)

38
Q

Familial dyslipidemias with even number are

A

AD

39
Q

Familial dyslipidemias 1,4 cause

A

pancreatitis

40
Q

Familial dyslipidemias 1,2,3 cause

A

xanthomas

41
Q

Familial dyslipidemias 2 causes

A

corneal arcus + tendon xanthomas

42
Q

Familial dyslipidemias 2,3

A

accelerated atherosclrosis

43
Q

Familial dyslipidemias 4 is related to

A

insulin resistance

44
Q

Familial dyslipidemia 1 has inc. blood level of

A

Chylomicrons, TG, cholesterol

45
Q

Familial dyslipidemia 2 has inc. blood level of

A

Ila: LDL, cholesterol
lib: LDL, cholesterol,VLDL

46
Q

Familial dyslipidemia 3 has inc. blood level of

A

Chylomicrons, VLDL

47
Q

Familial dyslipidemia 4 has inc. blood level of

A

VLDL, TG

Hypertriglyceridemia (> 1000 mg/dL)

48
Q

Abetalipoproteinemia

A 
FREE SAM:
F - Fatty acid restriction (TX)
R - Retinitis pigmentosa
E - E Vit E (TX-oral)
E - Enterocytes are lipid Layden

S - Spinocerebellar degeneration (due to vit E def.)
A - Acantocytosis+ no Apo B48/100
M - MTP mutation (microsomal transfer protein) + Malabsorption.

49
Q

weird reason for inc. synthesis of HDL

A

Alcohol

50
Q

CARRIER MOLECULES for Acyl groups

A

CoA, lipoamide

51
Q

Arsenic inhibits

A

lipoic acid.

52
Q

Pyruvate
dehydrogenase
complex deficiency
PATHOPHYSIOLOGY

A

Causes a buildup of pyruvate that gets shunted to lactate (via LDH) and alanine (via ALT).
X-linked.

53
Q

Pyruvate
dehydrogenase
complex deficiency
FINDINGS

A

Neurologic defects

Lactic acidosis

Inc. serum alanine starting in infancy.

54
Q

Pyruvate
dehydrogenase
complex deficiency
TREATMENT

A

intake of ketogenic nutrients

55
Q

Lactic acid dehydrogenase needs which cofactor?

A

B3

56
Q

Antimycin A:?

Azide:?

A

Antimycin A: complex 3 inhibitor

Azide: complex 4 inhibitor

57
Q

PEPCK needs?

A

GTP

58
Q

Cahill cycle

Cori cycle

A

Cahill cycle - Glucose & Alanin

Cori cycle - Glucose & Lactate

59
Q

orotic aciduria vs. ornithine transcarbamylase def.

A

orotic aciduria - has megaloblastic aneamia
ornithine transcarbamylase def. - has NH3

both have orotic acid in the urine (and blood)

60
Q

Von Gierke disease tx:

A

frequent oral glucose/cornstarch; avoidance of fructose and galactose

61
Q

Medium-chain acyl-CoA dehydrogenase

deficiency- findings

A 
Causes: vomiting + CALLS + hypoketotic hypoglycemia.
C - coma
A - hyperAmmonemia
L - lethargy
L - liver dysfunction
S - seizures

It can lead to sudden death in infants or children.

My step 1 mnemonics (19 decks)

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