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Biochem Shelf > Other Metabolic Diseases > Flashcards

Other Metabolic Diseases Flashcards

1
Q

what does increased NADH/NAD+ ratio when consuming ethanol cause?

A
  1. lactic acidosis (pyruvate -> lactate)
  2. inhibits gluconeogenesis -> fasting hypoglycemia
  3. increase TG synthesis -> hepatosteatosis
  4. decrease TCA cycle -> increase acetyl coA for lipogenesis (hepatosteatosis) and ketogenesis (ketoacidosis)
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2
Q

what is fomepizole?

A

drug that inhibits ADH + antidote for methanol/ethylene glycol poisoning

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3
Q

what is disulfram?

A

drug that inhibits ALDH -> increases acetaldehyde when alcohol is consumed -> increases super sick feeling

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4
Q

what happens with Pyruvate DH complex deficiency?

A

increased pyruvate -> shunted to lactate (LDH) or Ala (ALT) -> get lactic acidosis, increased serum Ala, neuro defects

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5
Q

inhibitors of ETC and what they inhibit?

A
  • rotenone: complex I
  • antimycin A: complex III
  • CO, CN: complex IV
  • oligomycin: complex V (ATPase)
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6
Q

what are uncoupling agents?

A
  • increase membrane permeability
  • stop ATP synthesis but ETC continues -> generate heat
  • 2,4-DNP, aspirin overdose, thermogenin
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7
Q

where is G6phosphatase NOT found?

A

muscle

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8
Q

what happens with fructokinase deficiency?

A

fructosuria

  • autosomal recessive
  • fructose in blood and urine
  • otherwise asymptomatic
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9
Q

what happens with aldolase B deficiency?

A

fructosemia/fructose intolerance

  • F1P accumulates, lowers phosphate, inhibits glycogenolysis and gluconeogenesis
  • symptoms appear after fruit, juice, or honey consumption
  • get reducing sugar in urine
  • hypoglycemia, jaundice, cirrhosis, vomiting
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10
Q

what happens with galactokinase deficiency?

A
  • galactitol accumulates
  • galactose in urine, blood
  • infant cataracts
  • initial presentation: failure to track objects
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11
Q

what happens with gal-1-uridyltransferase deficiency?

A

galactosemia

  • autosomal recessive
  • damage due to accumulation of toxins (galactitol)
  • failure to thrive, jaundice, hepatomegaly, infant cataracts, low IQ
  • can lead to E. coli sepsis in neonates
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12
Q

what is sorbitol?

A

alcohol version of glucose - another way to trap glucose inside a cell

  • via aldose reductase (uses NADPH)
  • some then proceed to turn sorbitol into fructose via sorbitol DH (uses NAD+)
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13
Q

what can intracellular sorbitol accumulation cause?

A

osmotic damage -> cataracts, retinopathy, peripheral neuropathy

(seen in diabetes)

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14
Q

different types of lactase deficiency

A
  • primary: age-dependent decline - no lactase persistent allele
  • secondary: loss of brush border due to gastroenteritis, etc.

all result in low stool pH, breath with increased H2 gas, bloating, cramps, flatulence, osmotic diarrhea

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15
Q

what happens with hyperammonemia and how do you treat it?

A

increased NH4+ -> decreased alpha-KG -> inhibits TCA

treat w/ benzoate or phenylbutyrate

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16
Q

symptoms of ammonia intoxication

A
  • tremor (asterixis)
  • slurring of speech
  • somnolence
  • vomiting
  • cerebral edema
  • blurring of vision
17
Q

what happens with NAG deficiency?

A

hyperammonemia (needed for CPSI)

-presents same as CPSI deficiency, but increased ornithine w/ normal urea cycle enzymes

18
Q

what happens with OTC deficiency?

A

increased carbamoyl phosphate -> make orotic acid

  • x linked recessive
  • increased orotic acid in blood/urine, decreased BUN, symptoms of hyperammonemia but no megaloblastic anemia

*most common urea cycle disorder

19
Q

PKU: cause and what happens

A

phenylalanine hydroxylase deficiency or BH4 deficiency

  • makes Tyr essential
  • increased phenylketones in urine
  • low IQ, growth retardation, seizures, fair skin, eczema, musty BO

must avoid aspartame

20
Q

what is maternal PKU

A

lack of proper diet therapy during pregnancy

-infant -> microcephaly, low IQ, growth retardation, congenital heart defects

21
Q

alcaptonuria: cause and what happens

A

aka ochronosis = deficiency of homogentisate oxidase

  • autosomal recessive
  • dark CT, brown sclera, urine turns black in air
  • may have debilitating arthralgias
22
Q

homocystinuria: cause and what happens

A

can be due to:

  • cystathione synthase deficiency
  • decreased affinity of cystathione synthase for PLP
  • homoCys methyltransferase/Met synthase deficiency

all cause increased homoCys in urine, low IQ, osteoporosis, tall stature, kyphosis, lens subluxation, thrombosis, atherosclerosis

23
Q

what is cystinuria?

A

defect of renal PCT and intestinal aa transporters for Cys, ornithine, Lys, Arg

  • autosomal recessive
  • urinary cyanide-nitroprusside test = diagnostic
24
Q

what is maple syrup urine disease?

A

blocked degradation of BCAA -> due to decreased alpha-ketoacid DH (needs B1)

  • increased a-ketoacids in blood
  • severe CNS defects, low IQ, death
  • urine smells like like maple syrup/burnt sugar
25
Q

von Gierke’s disease

A

deficient G-6-phosphatase (liver only)

  • severe fasting hypoglycemia
  • increased glycogen in liver
  • increased blood lactate
  • hepatomegaly
  • autosomal recessive
26
Q

Pompe disease

A

deficient acid maltase/lysosomal a-1,4-glucosidase

  • cardiomyopathy and systemic findings leading to early death
  • autosomal recessive
27
Q

Cori disease

A

deficient debranching enzyme (a-1,6-glucosidase)

-milder form of von Gierke’s with normal blood lactate levels

28
Q

McArdle’s disease

A

deficient skeletal muscle glycogen phosphorylase

  • increased glycogen in muscle, but can’t break it down
  • painful muscle cramps w/ exercise
  • red urine (myoglobinuria)
  • arrhythmia from electrolyte abnormalities
29
Q

Fabry disease

A

deficient alpha-galactosidase A

  • accumulate ceramide
  • x linked
  • peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease
30
Q

Gaucher disease

A

deficient glucocerebrosidase (B-glucosidase)

  • accumulate glucocerebroside
  • most common lysosomal storage disease **
  • hepatosplenomegaly, pancytopenia, aseptic necrosis of femur, bone crises, Gaucher cells (crumpled tissue macrophages)
31
Q

Niemann-Pick disease

A

deficient sphingomyelinase

  • accumulate sphingomyelin
  • progressive neurodegeneration, hepatosplenomegaly, cherry red spots on macula, foam cells
32
Q

Tay-Sachs disease

A

deficient hexosaminidase A

  • accumulate GM2 ganglioside
  • progressive neurodegeneration, developmental delay, cherry red spots on macula, lycosomes with onion skin , NO HEPATOSPLENOMEGALY
33
Q

Krabbe disease

A

deficient galactocerebrosidase

  • accumulate galactocerebroside
  • peripheral neuropathy, developmental delay, optic atrophy, globoid cells
34
Q

metachromatic leukodystrophy

A

deficient arylsulfatase A

  • accumulate cerebroside sulfate
  • central and peripheral demyelination with ataxia, dementia
35
Q

Hurler syndrome

A

deficient alpha-iduronidase

  • accumulate heparan sulfate, dermatan sulfate
  • developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
36
Q

Hunter syndrome

A

deficient iduronate sulfatase

  • x linked
  • accumulate heparan sulfate, dermatan sulfate
  • mild Hurler + aggressive behavior, no corneal clouding
37
Q

carnitine deficiency

A

inability to transport LCFAs into mitochondria -> toxic accumulation -> weakness, hypotonia, hypoketotic hypoglycemia

38
Q

acyl-coA DH deficiency

A

increased dicarboxylic acids, decreased glucose and ketones

Biochem Shelf (3 decks)

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