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First Aid/DIT > Biochem > Flashcards

Biochem Flashcards

1
Q

Pyruvate Dehydrogenase Deficiency

A

Lactic Acidosis, Neurologic Defects, Inc. Serum Alanine

Tx: Inc Ketogenic (Lysine, Leucine); fat intake

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2
Q

Glucose 6 Phosphate Dehydrogenase Deficiency

A

X-linked

Oxidative damage -> Hemolysis
Heinz bodies - oxidized hemoglobin
Bite cells

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3
Q

Fructose Metabolism

A

Essential Fructosuria - Fructokinase

Fructose Intolerance - Aldolase B

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4
Q

Galactose Metabolism

A

Galactokinase deficiency
Classic Galactosemia - Galactose 1 phosphate uridyltransferase

Infantile cataracts!!

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5
Q

Sorbital Accumulation

A

Lens - Retinopathy, Cataracts
Peripheral neuropathy - like in DM

No sorbital dehydrogenase

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6
Q

Essential Amino Acids

A

PVT TIM HaLL

Phenylalanine
Valine
Threonine
Tryptophan 
Isoleucine
Methionine 
Histadine 
Leucine
lysine.
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7
Q

Hyperammonia

A

Hyperammonia - depletes alphaKG -> TCA stops

Sx: hepatic encephalopathy

Tx:
Benzoate, Phenylbutyrate - bind AA & excrete,
Lactulose - trap it as NH4 for excretion

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8
Q

Ornithine transcarbamoylase deficiency

A

X-linked
Inc. carbomoyl phosphate -> Inc. Orotic Acid
Inc. NH3, sx of hyperammonia

No megaloblastic anemia, Dec. BUN

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9
Q

Phenylketonuria

A

AR: dec. phenylalanine hydroxylase, BH4

Sx: Intellectual disability, Growth retardation, Seizures, Fair skin, Eczema, Musty Odor

Tx: Avoid Phenylalanine, Aspartame. Give Tyrosine, BH4

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10
Q

Alkaptonuria

A

AR: deficient homogentisate oxidase

Sx: urine turns black when exposed to air, dark connective tissue, brown pigmented sclerae, debilitating arthralgias (Homogentistic acid deposits)

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11
Q

Homocystinuria

A

Enzyme deficiencies:

  • Cystathione Synthase, B6
  • Homocysteine MethylTransferase, B12
Inc. Homocystine in urine
Intellectual Disability 
Osteoporosis, Tall
Lens subluxation DOWN
Thrombosis, Atherosclerosis.
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12
Q

Cystinuria

A

AR: Defect of Renal tubules to secrete COLA (cysteine, ornithine, lysine, arginine)
Sx: Hexagonal Cystine Stones when pH acidic
Dx: Urinary cyanide-nitroprusside test (purple!)
Tx: Alkalinize the urine - acetazolamide

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13
Q

Maple Syrup Urine Disease

A

alpha ketoacid dehydrogenase (B1) - can’t digest branched chain amino acids (isoleucine, leucine, valine)

Sx: urine smells like maple syrup/burnt sugar
severe CNS defects, intellectual disability, death

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14
Q

Von Gierke

A

Glucose 6 Phosphatase

Hypoglycemia!!
Lactate, Uric acid, Hepatomegaly inc. glycogen

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15
Q

Pompe Disease

A

Lysosomal alpha 1,4

Cardiomegaly, Liver failure, Muscle weakness

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16
Q

Cori Disease

A

Debranching enzyme (alpha 1,6)

Milder Von Gierke. No lactic acidosis

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17
Q

McArdle

A

Glycogen Phosphorylase

Painful muscle cramps, Myoglobinuria, Arrhythmia from electrolyte abnl.

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18
Q

Fabry’s

A

Sx: Peripheral neuropathy, Angiokeratomas, Cardio/Renal

Deficient: Alpha galactosidase A

Accumulated: Ceramide Trihexoside

X-linked

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19
Q

Gaucher

A

Sx: HSM, Pancytopenia, Aseptic Necrosis of femur, Bone Crises

Histo: Gaucher cells - lipid laden macrophages - “crumpled tissue paper”

Deficient: Glucocerebrosidase

Accumulation: Glucocerebroside

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20
Q

Niemann Pick

A

Sx: Neurodegeneration - loss of previously acquired skills (ataxia, dysarthria), HSM, “Cherry red spot” macula

Histo: Foam cells - lipid laden macrophages

Deficient: Sphingomyelinase

Accumulation: Sphingomeylin

“No man picks (Niemann Pick) his nose without his sphinger (sphinogomyelinase)”

21
Q

Tay Sachs

A

Sx: Neurodegeneration, Developmental Delay, “cherry red” macula (same as niemann pick except NO HSM)

Histo: Lysosome with onion skin

Deficient: Hexosaminidase A

Accumulation: GM2 ganglioside

“Tay SaX lacks HeXosaminidase A”

22
Q

Krabbe disease

A

Sx: Peripheral neuropathy, Developmental Delay, + Optic Atrophy

Deficient: Galactocerebrosidase

Accumulation: Galactocerebroside

23
Q

Metachromic Leukodystrophy

A

Sx: Central and Peripheral Demyelination, Dementia + Muscle wasting/weakness

Deficient: Arylsulfatase A

Accumulation: Cerebroside Sulfate

24
Q

Hurler Syndrome

A

Sx: Developmental Delay + Gargolism + Corneal clouding + HSM

Deficient: alpha L iduronidase

Accumulation: Heparan sulfate, Dermatan sulfate

25
Q

Hunter syndrome

A

Sx: Mild Hurler
+ Aggressive Behavior
– Corneal clouding

Deficient: Iduronate sulfatase

Accumulation: Heparan sulfate, Dermatan sulfate (same)

X-linked

“Hunters see clearly (no corneal clouding) and aggressively aim for the X (X-linked)”

26
Q

What two lysosomal storage diseases are X-linked?

A

Fabry

Hunter

27
Q

What lysosomal storage diseases are increased in Ashkenazi jews?

A

Tay Sachs
Niemann Pick
Some forms of Gaucher

28
Q

Carnitine Deficiency

A

Inability to transport FA -> mito for beta oxidation

Hypoketotic Hypoglycemia, Weakness, Hypotonia

29
Q

Acyl CoA Dehydrogenase

A

Dec synthesis of acetyl coA -> dec. fasting glucose

acetyl CoA is allosteric (+) of pyruvate carboxylase in gluconeogenesis

30
Q

Vitamin A (retinol)

A

Retina, Specialized epithelial cell differentiation (prevents squamous metaplasia), antioxidant

Used to tx: AML M3, acne, measles

Deficiency:
Eye - night blindness, corneal degen/ulceration, bitot
Dry, scaly skin, Alopecia

Toxicity:
Teratogen
Pseudotumor cerebri
Arthralgia, Scaliness, Alopecia

31
Q

Vitamin B1 (thiamine)

A
  1. pyruvate dehydrogenase
  2. alpha ketogluturate dehydrogenase
  3. branched chain ketoacid dehydrogenase
  4. transketolase

Def:
Wernicke-Korsakoff
BeriBeri - Dry vs. Wet

32
Q

Vitamin B2 (Riboflavin)

A

FAD, FMN
Succinate dehydrogenase

Def causes 2 C’s:
Cheliosis, Corneal vascularization

33
Q

Vitamin B3 (Niacin)

A

NAD, Synthesized from Tryptophan with B6

Def causes:
Pellagra - 3Ds: dermatitis, diarrhea, dementia

Causes:

  • Hartnup disease (dec. tryptophan absorption)
  • Malignant carcinoid (too much serotonin using up tryptophan)
  • Isoniazid (dec B6)

Excess:
Facial flushing - prostaglandin
hyperglycemia
hyperuricemia

34
Q

Vitamin B5 (Pantothenate)

A

Acetyl CoA stuff:
Acetyl CoA carboxylase - FA synthesis
TCA cycle: Citrate synthase

35
Q

Vitamin B6 (Pyridoxine)

A

Synthesis of a lot of stuff - GABA, neurotransmitters, heme
Transamination
Decarboxylation

Def: INH, OCP
Convulsions, Hyperirritability
Peripheral Neuropathy
Sideroblastic Anemia

36
Q

Vitamin B7 (Biotin)

A

Carboxylase reactions

  • pyruvate carboxylase (gluconeogenesis)
  • acetyl coa carboxylase (FA synthesis)
  • propionyl coa carboxylase (odd chain branched FA)

Deficiency can be caused by ingestion of too many raw egg whites.

37
Q

Vitamin B9 (Folic Acid)

A

Converted to THF - 1C methylation - Synthesis of RNA,DNA

Megaloblastic Anemia, Hypersegmented PMN, Glossitis
Labs: Inc. Homocysteine

Alcoholics, Preg

38
Q

Vitamin B12 (Cobalamin)

A

Homocysteine Methyltransferase
Methylmalonyl CoA mutase

Megaloblastic Anemia, Hypersegmented PMN, Glossitis, NEUROLOGIC symptoms

Labs: Inc. Homocysteine AND MMA

39
Q

Vitamin C

A

Scurvy - bleeding gums, brusing, hemarthrosis, subperiosteal hemorrhage, poor wound healing

40
Q

Vitamin E

A

Antioxidant

Def:
Hemolytic Anemia + neuro sx like B12 deficiency, Acanthocytosis

41
Q

Vitamin K

A

cofactor for gamma-carboxylation of glutamic acid residues on protein needed for clotting: 1972CS

Def inc PT, PTT

42
Q

Zinc

A

Essential for 100+ enzymes

Def: delayed wound healing, hypogonadism, dec. taste, rashes

43
Q

Mercury Poisoning

A

Brain, Kidney, Acrodynia - peeling of fingers

Sources: BIG fish.

44
Q

Kwashiorkor

A 
MEALS: 
Malnutrition of Protein 
Edema, Swollen belly 
Anemia
Liver is fatty (can't make apolipoproteins) 
Skin lesions
45
Q

Marasmus

A

Total Calorie Malnutrition

Marasmus results in Muscle Wasting, Loss of SubQ fat, variable edema.

46
Q

Reactions in BOTH cytoplasm and mitochondria

A

“HUGs take two:”
Heme synthesis
Urea Cycle
Gluconeogensis

47
Q

Rxns in Mitochondria

A

TCA cycle, Acetyl CoA production, FA oxidation, Oxidative Phosphorylation

48
Q

Lesch Nyhan

A

X-linked: ABSENT HGPRT - defective purine salvage

Hyperuricemia 
Gout
Pissed off - aggression, self mutilation
Retardation 
DysTonia

Tx: allopurinol, febuxostat

First Aid/DIT (5 decks)

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