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Genetic disorders of metabolic pathways Flashcards

1
Q

what are the essential amino acids

A

TV FHIL Might Kill Real Women

threonine, valine, phenylalanine, histadine, isoleucine, leucine, methionine, lysine, arginine, tryptophan

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2
Q

signs of phenylketonuria

A

My MILC

  • musty or mousy odor
  • microcephaly
  • intellectual disability
  • light hair, bluish eyes (tyr to melanin metab impaired)
  • convulsive movements: gabba neurons impaired
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3
Q

classical PKU is from what

A

phenylalanine —phenylalanine hydroxylase–> tyrosine

phe hyrdoxylase is defective
-liver specific

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4
Q

what causes secondary PKU and what enzymes involved

A

PTPS defective prevents synthesis of THB (cofactor req)

-dihydropteridine reductase: recycles DHB to THB

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5
Q

what does phenylalanine get converted to in alternative pathway when phe hydroxylase is defective and what does this cause

A

phenylpyruvate: interferes with transport of pyruvate into mitchondria in brain
- phenylpyruvate to phenylacetate = musty smell

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6
Q

what can you give as treatment for 2ndary PKU

A

sepiapterin

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7
Q

consequence of excess phenylalanine

A

inhibit tyrosinase

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8
Q

excessive phe inhibits what enzymes which causes what

A

tyrosinase: decrease in pigmentation
5HT decarboxylase: decrease in serotonin
glutamate decarboxylase: decrease GABA syn

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9
Q

how do you treat PKU

A

diet without phe and supplement with tyrosine

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10
Q

maternal PKU

A

phe crosses placenta and fetal PAH cannot convert Phe to Tyr

  • mental retardation
  • microcephaly
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11
Q

alkaptonuria, which enzyme defective

A

homogentisate oxidase,

-buildup of homogentisate

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12
Q

presentation of alkaptornuria

A
  • typically presents in 20s-30s
  • discoloration of sclera
  • dark colored urine
  • accumulation of HA–> degeneration of cartilage of spine and other major joints
    • kidney disease
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13
Q

enyzme defective in albinism

A

tyrosinase

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14
Q

tyrosinemia type 1:

defective step and converion to what in alternative path

A

fumarylacetoacetate–fumarylacetoacetate hydrolsae–>acetoacette/fumarate

  • fumarylacetoacetate hydrolase defective
  • fumarylacetoacetate converted to succinylacetone which is toxic
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15
Q

how is succinylacetone toxic in _____

A

tyrosinemia

  • toxic to liver and kidney
  • effects TCA bc of succinly coA
  • first rxn in heme syn impaired
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16
Q

homocystinuria defective enzyme

A

cystathione B-synthase

17
Q

toxic molecule in alt pathway of homocystinuria

A

homocysteine thiolactone

-reacts w/ lysine residues

18
Q

what enzyme can convert homocysteine back to methionine and what cofactors req

A

methionine synthase

B6,B12,folic acid

19
Q

clinical features homocystinuria

A
  • stroke
  • deep vein thrombosis
  • atherosclerosis
  • marfan-like haitus
  • mental retardation
20
Q

maple syrum disease, aas involved

A

valine, isoleucine, leucine

21
Q

maple syrum disease intermediates that build up

A

a-ketoisovalerate

  • a-keto-B-methylvalerate
  • aketoisocaproate
22
Q

enzyme defective in maple syrup disease

A

a-ketoacid decarboxylase

23
Q

presentation of maple syrup urine disease

A

symptoms 3-4 days after birth

  • feeding difficulties, vomitin, lethargic, abnormal muscle tone, coma, death
  • elevated BCAAs and a-ketoacids in urine and plasma, burnt sugar smell
  • high incidence in mennonite community
24
Q

what enzymes defective in galactosemia

A

galactokinase
UDP-glactose-4’-epimerase
-galactose-1-phosphate uridyl transferase

25
Q

what is the alt pathway in galactosemia

A

galactatol

-contributes to cataracts and some NS stress

26
Q

which 2 enzymes are most damaging when defective in galactosemia and why

A

UDP-glactose-4’-epimerase and galactose-1-phosphate uridyl transferase

  • builup of galactose-1-phosphate
  • sucks up phosphates in cell and causes phosphate defeciency
  • heptaomegaly
27
Q

galactosemia and infants

A

infants can’t utilize galactose in milk

  • malnutrition, failure to thrive
  • galactose accumulates in tissue
  • damage to liver brain eyes, mental retardadation
  • **cataracts within first few weeks
  • vomiting, diarrhea, jaundice, hepatomegaly

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