Amino Acid/Nitrogen Flashcards
(39 cards)
0
Q
Argininemia
- description
- mechanism
- Treatment
A
- genetic hyperammonemia
- arginase defective –> arginine and ammonia buildup
- treat: low prot diet
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
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
3
Q
Citrillinemia Type1
- mechanism
- symptoms
A
- mutation in AS gene –> ammonia accum in blood
- lethargy, seizures, ataxia
4
Q
Citrullinemia type 2
- frequency
- mechanism
A
- east asians, middle E
- disfunction in citrin synthesis (transporter)–> ammonia buildup
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)
6
Q
Tetrahydrobioterin deficiency
- description
- symptoms
A
- more severe form of PKU (tyrosine deficiency)
- loss of pigment, MR
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
8
Q
Cystathioninuria
- description
- mechanism
- symptoms
A
- autosomal recesive; met metabolism disorder
- cystathionase deficiency –> excess cystathione
- benign; cys = EAA
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
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
11
Q
GABA synthesis
A
glutamate decarboxylation
12
Q
Histamine synthesis
A
histidine decarboxylation
13
Q
5HT synthesis
A
hydroxytryptamine
Tryptophan –> decarboxylation –> 5HT
14
Q
Epinephrine synthesis
A
tyrosine –> DOPA –> DA –> norepinphrine –> epinephrine
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
Leigh syndrome
- mechanism
- symptom
- mt DNA mutation; oxphos
- complex I, IV mutation (also X linked form)
- neurodegen (death within 2 yrs)
25
Leigh syndrome is also know as?
Subacute necrotizing encephalopathy
26
MCAD deficiency:
- mechanism
- symptom
- treatment
FA beta oxidation
- acyl CoA DH defect --> MCFA accum
- hypokinetic hypoglycemia
- treat: high carb/low fat; avoid fast
27
What disease is associated with SIDS?
MCAD deficiency
28
CPT II deficiency
- symptom
- types
- treatment
Carnitine metab; FA oxidation
- myoglobinuria w exercise/fast
- adult, infantile, neonatal (lethal)
- treat: avoid fast/exercise/fat; more SCFA intake, carnitine supplement
29
Jamaican Vomiting Sickness
- symptom
- mechanism
Carnitine metabolism; FA oxidation
- inhibit SCAD and MCAD --> SCFA and MCFA buildup --> dicarboxylic acid in urine
- severe hypoglycemia
30
Proprionic acidemia
- mechnism
- smptoms
- treatment
Odd chain oxidation
- defect [proprionyl CoA--> methylmalonyl CoA] --> excess proprionyl CoA
- acidic urine, ketoacidosis, hypoglycemia, hyperammonemia
- treat w bicarb, decrease prot/high carb
31
Methylmalonic acidemia
- mechanism
- symptom
- treatment
Odd chain
- defect MCM or B12 deficiency
- methylmalonic acid in urine, hypoglycemia, hyperammonemia
- treat: low AA, low odd chain, B12 supplement, carnitine supplement
32
Methylmalonic acidemia can be caused by what vit deficiency?
B12
33
Zellweger spectrum disorders
- descript
- types
peroxisoomal FA oxidation
- defect peroxisome biogenesis
- zellweger syndrome (most severe); neonatal adrenoleukodystrophy (NALD); infantil refsum disease (IRD) (loss of sense and motor progressive)
34
Refsum disease
- types
- symptoms
- treatment
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
X-linked adrenoluekodystrophy
- mechanism
- symptom
- types
- treatment
peroxisomal FA oxidation
- protein that transports VLCFA to peroxisome
- myelin damage
- childhood cerebral ALD (Severe death 2 yrs), adrenomyeloneuropahty (AMN) progressive)
- lorenzos oil
36
Foldase enzymes (2)
PPI: speeds cis --> trans isomerization
PDI: speeds oxidation (in ER)
37
Lissencephaly
missense mutation (incomplete folding of tubulin0 --> defective nueron migration
38
Alpha antitrypsin deficiency
```
protease LOF (incomplete folding ) --> aggregation GOF
lung liver damage
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