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Foundations1 > Amino Acid/Nitrogen > Flashcards

Amino Acid/Nitrogen Flashcards

0
Q

Argininemia

  • description
  • mechanism
  • Treatment
A
  • genetic hyperammonemia
  • arginase defective –> arginine and ammonia buildup
  • treat: low prot diet
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1
Q

Hyperammonemia

  • description
  • diagnostic signs
  • treatment
A
  • liver defect, acquired or genetic
  • organic acid levels, AA, orotic acid in urine
  • restrict protein diet, Na benzoate and Na phenylacetate
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2
Q

Arginosucciniaciduria

  • descript
  • mechanism
  • diagnosis
  • treatment
A
  • genetic hyperammonemia
  • defective AL –> ammonia buildup
  • ammonia level in blood
  • treat: hemodialysis, IV arginine delivery, restirct prot diet
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3
Q

Citrillinemia Type1

  • mechanism
  • symptoms
A
  • mutation in AS gene –> ammonia accum in blood

- lethargy, seizures, ataxia

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4
Q

Citrullinemia type 2

  • frequency
  • mechanism
A
  • east asians, middle E

- disfunction in citrin synthesis (transporter)–> ammonia buildup

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5
Q

Phenylketonuria (PKU)

  • descript
  • mechanism
  • treatment
A
  • tyrosine biosynthesis deficiency
  • deficient phenylalanine hydroxylasee, dihydrobiopterin synthetase, dhydropteridine reductas –> excess phenylalanine –> phenylketo acids
  • no diet food with phenylalalnine, take a tyrosine supplement (EAA now)
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6
Q

Tetrahydrobioterin deficiency

  • description
  • symptoms
A
  • more severe form of PKU (tyrosine deficiency)

- loss of pigment, MR

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7
Q

Homocysteinuria

  • description
  • mechanism
  • symptoms
  • treatment
A
  • recessive genetic; met metabolism deficiency
  • CBS deficiency–> met excess, homocysteine excess
  • homocysteine disrupts collagen linking –> atherosclerosis, PVD, ectopia lentis
  • treat: restrict met diet, increase B6 (CBS needs PLP), B12 and folic acid supplement
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8
Q

Cystathioninuria

  • description
  • mechanism
  • symptoms
A
  • autosomal recesive; met metabolism disorder
  • cystathionase deficiency –> excess cystathione
  • benign; cys = EAA
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9
Q

Porphyrias

  • descript
  • symptoms
A
  • [gly–>heme] deficiency –> metab intermediate accum

- cutaneous photosensitivity (reactive O2 species generated by sunlight); dark urine, darker under sunlight

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10
Q

Lead poisoning

  • description
  • mechanism
  • symptoms
A
  • [gly–>heme] deficiency
  • ALA dehydratase and ferrochelatase block –> accum ALA in urea; IX accum in RBC
  • neuro probs
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11
Q

GABA synthesis

A

glutamate decarboxylation

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12
Q

Histamine synthesis

A

histidine decarboxylation

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13
Q

5HT synthesis

A

hydroxytryptamine

Tryptophan –> decarboxylation –> 5HT

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14
Q

Epinephrine synthesis

A

tyrosine –> DOPA –> DA –> norepinphrine –> epinephrine

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15
Q

Carnitine synthesis

A

Lysine –> carnitine

16
Q

NO synthesis

A

L-arginine +O2 –> CO + citrulline

17
Q

Arsenic poisoning

  • descript
  • mechanism
A
  • glycolysis/TCA
  • arsenate decouples ATP synthesis
  • arsenite binds pyruvate DH –>no acetyl CoA
  • pyruvate excess –> lactic acidosis
18
Q

Pyruvate kinase deficiency

-symptoms

A 
glycolysis
hemolytic anemia (dependent on glycolysis)
19
Q

Pyruvate carboxylase deficiency

  • mechanism
  • symptoms
  • types
  • treatment
A
  • TCA
  • lactic acidosis; blocked gluconeogenesis –> hypoglycemia
  • myelin impact
  • A) infantile (NA); B) severe neonatal (france); C) mild intermittent
  • avoid fast, high carb/high prot; citrate; biotin
20
Q

Pyruvate dehydrogenase deficiency

  • description
  • types
  • treatment
A

TCA

  • xlinked; lactic acidosis
  • metabolic form (severe) (death at birth from LA); chronic neurological form (mild) MR
  • high fat/low carb; thiamin supplement
21
Q

Acute cyanide poisoning

  • mechanism
  • symptoms
  • treatment
A

Oxphos

  • binds Fe3+ of cytochrome oxidase
  • hyperventilation, lactic acidosis
  • treat: nitrite (oxidizes hb, will bind here)
22
Q

MERFF

  • mechanism
  • symptoms
  • treat
A

mitochondrial DNA mutations; Oxphos

  • point mutation at mt tRNA
  • epilepsy, dementia
  • treat: coE Q10, carnitine
23
Q

LHON

  • mechanism
  • symptom
A

(lebers hereditary optic neuropathy) mt DNA mutation; oxphos

  • complex I mutation (NADH Q reductase)
  • optic nerve degen
24
Q

Leigh syndrome

  • mechanism
  • symptom
A
  • mt DNA mutation; oxphos
  • complex I, IV mutation (also X linked form)
  • neurodegen (death within 2 yrs)
25
Q

Leigh syndrome is also know as?

A

Subacute necrotizing encephalopathy

26
Q

MCAD deficiency:

  • mechanism
  • symptom
  • treatment
A

FA beta oxidation

  • acyl CoA DH defect –> MCFA accum
  • hypokinetic hypoglycemia
  • treat: high carb/low fat; avoid fast
27
Q

What disease is associated with SIDS?

A

MCAD deficiency

28
Q

CPT II deficiency

  • symptom
  • types
  • treatment
A

Carnitine metab; FA oxidation

  • myoglobinuria w exercise/fast
  • adult, infantile, neonatal (lethal)
  • treat: avoid fast/exercise/fat; more SCFA intake, carnitine supplement
29
Q

Jamaican Vomiting Sickness

  • symptom
  • mechanism
A

Carnitine metabolism; FA oxidation

  • inhibit SCAD and MCAD –> SCFA and MCFA buildup –> dicarboxylic acid in urine
  • severe hypoglycemia
30
Q

Proprionic acidemia

  • mechnism
  • smptoms
  • treatment
A

Odd chain oxidation

  • defect [proprionyl CoA–> methylmalonyl CoA] –> excess proprionyl CoA
  • acidic urine, ketoacidosis, hypoglycemia, hyperammonemia
  • treat w bicarb, decrease prot/high carb
31
Q

Methylmalonic acidemia

  • mechanism
  • symptom
  • treatment
A

Odd chain

  • defect MCM or B12 deficiency
  • methylmalonic acid in urine, hypoglycemia, hyperammonemia
  • treat: low AA, low odd chain, B12 supplement, carnitine supplement
32
Q

Methylmalonic acidemia can be caused by what vit deficiency?

A

B12

33
Q

Zellweger spectrum disorders

  • descript
  • types
A

peroxisoomal FA oxidation

  • defect peroxisome biogenesis
  • zellweger syndrome (most severe); neonatal adrenoleukodystrophy (NALD); infantil refsum disease (IRD) (loss of sense and motor progressive)
34
Q

Refsum disease

  • types
  • symptoms
  • treatment
A

Peroxisomal FA oxidation

  • Type 1: PAHX defect; Type 2: peroxin 7 defect
  • retinosa pigmentosa, other sensory prob
  • treat: diet restrict; avoid phytanic acid (cows)
35
Q

X-linked adrenoluekodystrophy

  • mechanism
  • symptom
  • types
  • treatment
A

peroxisomal FA oxidation

  • protein that transports VLCFA to peroxisome
  • myelin damage
  • childhood cerebral ALD (Severe death 2 yrs), adrenomyeloneuropahty (AMN) progressive)
  • lorenzos oil
36
Q

Foldase enzymes (2)

A

PPI: speeds cis –> trans isomerization
PDI: speeds oxidation (in ER)

37
Q

Lissencephaly

A

missense mutation (incomplete folding of tubulin0 –> defective nueron migration

38
Q

Alpha antitrypsin deficiency

A 
protease LOF (incomplete folding ) --> aggregation GOF
lung liver damage

Foundations1 (14 decks)

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