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Adrenoleukodystrophy – an X-linked, sex-linked,recessive, genetic disorder
Mr. Murphy Mrs. Murphy
Canise Mariah Michaela DiedreAugusto
Lorenzo Christina Francesco
XAX?
XAX?
XAX?
XAXA
XAXaXAY
XAX?
XAXaXAXaXAXa XAYXAY XAY
XaYXAY XAY
Affected femaleUnaffected female
Unaffected maleAffected male
Augusto Adone’s Kitchen Sink Analogyfor Long-Chain Saturated Fats
Sink = Lorenzo’s body
Tap = Diet as source of long-chain saturated fatty acids
Drain = enzyme which digests excess long-chain saturated fatty acids
Augusto Adone’s Kitchen Sink Analogyfor Long-Chain Saturated Fats
Sink = Lorenzo’s body
Tap = Diet as source of long-chain saturated fatty acids
Drain = enzyme which digests excess long-chain saturated fatty acids
Plugged drain = missing enzyme in boys with ALD
Augusto Adone’s Kitchen Sink Analogyfor Long-Chain Saturated Fats
Sink = Lorenzo’s body
Tap = Diet as source of long-chain saturated fatty acids
Drain = enzyme which digests excess long-chain saturated fatty acids
Plugged drain = missing enzyme in boys with ALD
Rising water level in sink = Rising level oflong-chain saturatedfats in blood from diet,which destroy myelin
Augusto Adone’s Kitchen Sink Analogyfor Long-Chain Saturated Fats
Sink = Lorenzo’s body
Tap = Diet as source of long-chain saturated fatty acids
Drain = enzyme which digests excess long-chain saturated fatty acids
Plugged drain = missing enzyme in boys with ALD
Rising water level in sink = Rising level oflong-chain saturatedfats in blood from diet,which destroy myelin
Tap turned off = therapyby diet, remove long-chainsaturated fats from diet
Augusto Adone’s Kitchen Sink Analogyfor Long-Chain Saturated Fats
Sink = Lorenzo’s body
Tap = Diet as source of long-chain saturated fatty acids
Drain = enzyme which digests excess long-chain saturated fatty acids
Plugged drain = missing enzyme in boys with ALD
Rising water level in sink = Rising level oflong-chain saturatedfats in blood from diet,which dissolve myelin
Tap turned off = therapyby diet, remove long-chainsaturated fats from diet
Tap turned on = increasedbiosynthesis maintaininghigh levels of long-chainsaturated fats in blood
H H H H H H H H H H H H H H H H H H H H H H H O I I I I I I I I I I I I I I I I I I I I I I I IIH—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—O I I I I I I I I I I I I I I I I I I I I I I I H H H H H H H H H H H H H H H H H H H H H H H H
Saturated C24H48O2
Tetracosanoic acid, or lignoceric acid
H H H H H H H H H H H H H H H H H O I I I I I I I I I I I I I I I I I IIH—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—O I I I I I I I I I I I I I I I I I H H H H H H H H H H H H H H H H H H
Saturated C18H36O2
Octadecanoic acid, or stearic acid
H H H H H H H H H H H H H H H H H H H H H O I I I I I I I I I I I I I I I I I I I I I IIH—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—C—O I I I I I I I I I I I I I I I I I I I I I H H H H H H H H H H H H H H H H H H H H H H
Saturated C22H44O2
Docosanoic acid, or behenic acid
Long-Chain Saturated Fatty Acids
Monounsaturated C18H34O2
cis-9-Octadecenoic acid, or oleic acid
H H H H H H H H
I I I I I I I I
H—C—
C—C—
C—C—
C—C—
C—
I I I I I I I I
H H H H H H H H
HH
H
H
H H
H
H
H O
I
I
I
I
I
I
I
II
—C—
C—C—
C—C—
C—C—
C—O
I
I
I
I
I
I
I
H
H
H H
H
H
H
H
C C——
Long-Chain Monounsaturated Fatty Acids
H H H H H H H H
I I I I I I I I
H—C—
C—C—
C—C—
C—C—
C—
I I I I I I I I
H H H H H H H H
HH
H
H
H H
H
H
H H
H
H
H O
I
I
I
I
I
I
I
I
I
I
I
II
—C—
C—C—
C—C—
C—C—
C—C—
C—C—
C—O
I
I
I
I
I
I
I
I
I
I
I
H
H
H H
H
H
H
H
H H
H
H
C C——
Monounsaturated C22 C42O2
cis-13-Docosenoic acid, or erucic acid
Long-Chain Monounsaturated Fatty Acids
Monounsaturated C24 C46O2
cis-15-Tetracosenoic acid, or nervonic acid
H H H H H H H H
I I I I I I I I
H—C—
C—C—
C—C—
C—C—
C—
I I I I I I I I
H H H H H H H H
HH
H
H
H H
H
H
H H
H
H
H
H H
O
I
I
I
I
I
I
I
I
I
I
I
I
I
II
—C—
C—C—
C—C—
C—C—
C—C—
C—C—
C—C—
C—O
I
I
I
I
I
I
I
I
I
I
I
I
I
H
H
H H
H
H
H
H
H H
H
H
H
H
C C——
Long-Chain Monounsaturated Fatty Acids
Competitive Inhibition – inhibiting biosynthesis of long-chainsaturated fatty acids by increasing biosynthesis of long-chainmonounsaturated fatty acids
CH3(CH2)22COOH
CH3(CH2)20COOH
CH3(CH2)16COOH
CH3(CH2)7CH CH(CH2)13COOH——
CH3(CH2)7CH CH(CH2)7COOH——
CH3(CH2)7CH CH(CH2)11COOH——
oleic acid
nervonic acid
erucic acid
stearic acid
lignoceric acid
behenic acid
Competitive Inhibition – inhibiting biosynthesis of long-chainsaturated fatty acids by increasing biosynthesis of long-chainmonounsaturated fatty acids
CH3(CH2)22COOH
CH3(CH2)20COOH
CH3(CH2)16COOH
CH3(CH2)7CH CH(CH2)13COOH——
CH3(CH2)7CH CH(CH2)7COOH——
CH3(CH2)7CH CH(CH2)11COOH——
oleic acid
nervonic acid
erucic acid
stearic acid
lignoceric acid
behenic acid
Competitive Inhibition – inhibiting biosynthesis of long-chainsaturated fatty acids by increasing biosynthesis of long-chainmonounsaturated fatty acids
CH3(CH2)22COOH
CH3(CH2)20COOH
CH3(CH2)16COOH
CH3(CH2)7CH CH(CH2)13COOH——
CH3(CH2)7CH CH(CH2)7COOH——
CH3(CH2)7CH CH(CH2)11COOH——
oleic acid
nervonic acid
erucic acid
stearic acid
lignoceric acid
behenic acid
Diet therapy
Competitive Inhibition – inhibiting biosynthesis of long-chainsaturated fatty acids by increasing biosynthesis of long-chainmonounsaturated fatty acids
CH3(CH2)22COOH
CH3(CH2)20COOH
CH3(CH2)16COOH
CH3(CH2)7CH CH(CH2)13COOH——
CH3(CH2)7CH CH(CH2)7COOH——
CH3(CH2)7CH CH(CH2)11COOH——
oleic acid
nervonic acid
erucic acid
stearic acid
lignoceric acid
behenic acid
Diet therapy
Competitive Inhibition – inhibiting biosynthesis of long-chainsaturated fatty acids by increasing biosynthesis of long-chainmonounsaturated fatty acids
CH3(CH2)22COOH
CH3(CH2)20COOH
CH3(CH2)16COOH
CH3(CH2)7CH CH(CH2)13COOH——
CH3(CH2)7CH CH(CH2)7COOH——
CH3(CH2)7CH CH(CH2)11COOH——
oleic acid
nervonic acid
erucic acid
stearic acid
lignoceric acid
behenic acid
Diet therapy
Competitive Inhibition – inhibiting biosynthesis of long-chainsaturated fatty acids by increasing biosynthesis of long-chainmonounsaturated fatty acids
CH3(CH2)22COOH
CH3(CH2)20COOH
CH3(CH2)16COOH
CH3(CH2)7CH CH(CH2)13COOH——
CH3(CH2)7CH CH(CH2)7COOH——
CH3(CH2)7CH CH(CH2)11COOH——
oleic acid
nervonic acid
erucic acid
stearic acid
lignoceric acid
behenic acid
Biosynthesis
Diet therapy
Competitive Inhibition – inhibiting biosynthesis of long-chainsaturated fatty acids by increasing biosynthesis of long-chainmonounsaturated fatty acids
CH3(CH2)22COOH
CH3(CH2)20COOH
CH3(CH2)16COOH
CH3(CH2)7CH CH(CH2)13COOH——
CH3(CH2)7CH CH(CH2)7COOH——
CH3(CH2)7CH CH(CH2)11COOH——
oleic acid
nervonic acid
erucic acid
stearic acid
lignoceric acid
behenic acid
CC
Enzyme
Diet therapy
Biosynthesis
Competitive Inhibition – inhibiting biosynthesis of long-chainsaturated fatty acids by increasing biosynthesis of long-chainmonounsaturated fatty acids
CH3(CH2)22COOH
CH3(CH2)20COOH
CH3(CH2)16COOH
CH3(CH2)7CH CH(CH2)13COOH——
CH3(CH2)7CH CH(CH2)7COOH——
CH3(CH2)7CH CH(CH2)11COOH——
oleic acid
nervonic acid
erucic acid
stearic acid
lignoceric acid
behenic acid
CC
Diet therapy
Enzyme
Biosynthesis
Competitive Inhibition – inhibiting biosynthesis of long-chainsaturated fatty acids by increasing biosynthesis of long-chainmonounsaturated fatty acids
CH3(CH2)22COOH
CH3(CH2)20COOH
CH3(CH2)16COOH
CH3(CH2)7CH CH(CH2)13COOH——
CH3(CH2)7CH CH(CH2)7COOH——
CH3(CH2)7CH CH(CH2)11COOH——
oleic acid
nervonic acid
erucic acid
stearic acid
lignoceric acid
behenic acid
C
C
Diet therapy
Enzyme
CompetitiveInhibition
Biosynthesis
Competitive Inhibition – inhibiting biosynthesis of long-chainsaturated fatty acids by increasing biosynthesis of long-chainmonounsaturated fatty acids
CH3(CH2)22COOH
CH3(CH2)20COOH
CH3(CH2)16COOH
CH3(CH2)7CH CH(CH2)13COOH——
CH3(CH2)7CH CH(CH2)7COOH——
CH3(CH2)7CH CH(CH2)11COOH——
oleic acid
nervonic acid
erucic acid
stearic acid
lignoceric acid
behenic acid
C
C
Diet therapy
Enzyme
CompetitiveInhibition
Biosynthesis
Competitive Inhibition – inhibiting biosynthesis of long-chainsaturated fatty acids by increasing biosynthesis of long-chainmonounsaturated fatty acids
CH3(CH2)22COOH
CH3(CH2)20COOH
CH3(CH2)16COOH
CH3(CH2)7CH CH(CH2)13COOH——
CH3(CH2)7CH CH(CH2)7COOH——
CH3(CH2)7CH CH(CH2)11COOH——
oleic acid
nervonic acid
erucic acid
stearic acid
lignoceric acid
behenic acid
C
C
Diet therapy
Enzyme
CompetitiveInhibition
Biosynthesis
Competitive Inhibition – inhibiting biosynthesis of long-chainsaturated fatty acids by increasing biosynthesis of long-chainmonounsaturated fatty acids
CH3(CH2)22COOH
CH3(CH2)20COOH
CH3(CH2)16COOH
CH3(CH2)7CH CH(CH2)13COOH——
CH3(CH2)7CH CH(CH2)7COOH——
CH3(CH2)7CH CH(CH2)11COOH——
oleic acid
nervonic acid
erucic acid
stearic acid
lignoceric acid
behenic acid
C
C
C
C Diet therapy
Enzyme
Enzyme
CompetitiveInhibition
Biosynthesis
Competitive Inhibition – inhibiting biosynthesis of long-chainsaturated fatty acids by increasing biosynthesis of long-chainmonounsaturated fatty acids
CH3(CH2)22COOH
CH3(CH2)20COOH
CH3(CH2)16COOH
CH3(CH2)7CH CH(CH2)13COOH——
CH3(CH2)7CH CH(CH2)7COOH——
CH3(CH2)7CH CH(CH2)11COOH——
oleic acid
nervonic acid
erucic acid
stearic acid
lignoceric acid
behenic acid
C
C
C
C Diet therapy
Enzyme
Enzyme
CompetitiveInhibition
Biosynthesis
Competitive Inhibition – inhibiting biosynthesis of long-chainsaturated fatty acids by increasing biosynthesis of long-chainmonounsaturated fatty acids
CH3(CH2)22COOH
CH3(CH2)20COOH
CH3(CH2)16COOH
CH3(CH2)7CH CH(CH2)13COOH——
CH3(CH2)7CH CH(CH2)7COOH——
CH3(CH2)7CH CH(CH2)11COOH——
oleic acid
nervonic acid
erucic acid
stearic acid
lignoceric acid
behenic acid
C
C
C
C Diet therapy
Enzyme
Enzyme
CompetitiveInhibition
CompetitiveInhibition