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Biochem Flashcards

(48 cards)

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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

Study These Flashcards
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

Study These Flashcards
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

Study These Flashcards
A

Sx: Peripheral neuropathy, Developmental Delay, + Optic Atrophy

Deficient: Galactocerebrosidase

Accumulation: Galactocerebroside

23
Q

Metachromic Leukodystrophy

Study These Flashcards
A

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

Deficient: Arylsulfatase A

Accumulation: Cerebroside Sulfate

24
Q

Hurler Syndrome

Study These Flashcards
A

Sx: Developmental Delay + Gargolism + Corneal clouding + HSM

Deficient: alpha L iduronidase

Accumulation: Heparan sulfate, Dermatan sulfate

25
Hunter syndrome
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
What two lysosomal storage diseases are X-linked?
Fabry | Hunter
27
What lysosomal storage diseases are increased in Ashkenazi jews?
Tay Sachs Niemann Pick Some forms of Gaucher
28
Carnitine Deficiency
Inability to transport FA -> mito for beta oxidation Hypoketotic Hypoglycemia, Weakness, Hypotonia
29
Acyl CoA Dehydrogenase
Dec synthesis of acetyl coA -> dec. fasting glucose | acetyl CoA is allosteric (+) of pyruvate carboxylase in gluconeogenesis
30
Vitamin A (retinol)
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
Vitamin B1 (thiamine)
1. pyruvate dehydrogenase 2. alpha ketogluturate dehydrogenase 3. branched chain ketoacid dehydrogenase 4. transketolase Def: Wernicke-Korsakoff BeriBeri - Dry vs. Wet
32
Vitamin B2 (Riboflavin)
FAD, FMN Succinate dehydrogenase Def causes 2 C's: Cheliosis, Corneal vascularization
33
Vitamin B3 (Niacin)
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
Vitamin B5 (Pantothenate)
Acetyl CoA stuff: Acetyl CoA carboxylase - FA synthesis TCA cycle: Citrate synthase
35
Vitamin B6 (Pyridoxine)
Synthesis of a lot of stuff - GABA, neurotransmitters, heme Transamination Decarboxylation Def: INH, OCP Convulsions, Hyperirritability Peripheral Neuropathy Sideroblastic Anemia
36
Vitamin B7 (Biotin)
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
Vitamin B9 (Folic Acid)
Converted to THF - 1C methylation - Synthesis of RNA,DNA Megaloblastic Anemia, Hypersegmented PMN, Glossitis Labs: Inc. Homocysteine Alcoholics, Preg
38
Vitamin B12 (Cobalamin)
Homocysteine Methyltransferase Methylmalonyl CoA mutase Megaloblastic Anemia, Hypersegmented PMN, Glossitis, NEUROLOGIC symptoms Labs: Inc. Homocysteine AND MMA
39
Vitamin C
Scurvy - bleeding gums, brusing, hemarthrosis, subperiosteal hemorrhage, poor wound healing
40
Vitamin E
Antioxidant Def: Hemolytic Anemia + neuro sx like B12 deficiency, Acanthocytosis
41
Vitamin K
cofactor for gamma-carboxylation of glutamic acid residues on protein needed for clotting: 1972CS Def inc PT, PTT
42
Zinc
Essential for 100+ enzymes Def: delayed wound healing, hypogonadism, dec. taste, rashes
43
Mercury Poisoning
Brain, Kidney, Acrodynia - peeling of fingers Sources: BIG fish.
44
Kwashiorkor
``` MEALS: Malnutrition of Protein Edema, Swollen belly Anemia Liver is fatty (can't make apolipoproteins) Skin lesions ```
45
Marasmus
Total Calorie Malnutrition Marasmus results in Muscle Wasting, Loss of SubQ fat, variable edema.
46
Reactions in BOTH cytoplasm and mitochondria
"HUGs take two:" Heme synthesis Urea Cycle Gluconeogensis
47
Rxns in Mitochondria
TCA cycle, Acetyl CoA production, FA oxidation, Oxidative Phosphorylation
48
Lesch Nyhan
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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