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" varones )

1 Orotic aciduria Pyrimidine metabolism HMP shunt Glycolysis Glycogenolysis / Galactose metabolism
Glucose ' glycogenesis
:#%:*.se Lactose
Ai
2 G6PD deficiency
| (
ATP i

" 1-
P
EL
] Glucose
"

Glutamine ADP

]
CO2 NADPH NADP+ NADPH NADP

d-cao.tn
+ muer ) CGALT )
Hexokinase / Glucose-6- 10 15 Glactose-1-phosphate Lactase 13
9 glucokinase* phosphatase
3 Lesch-Nyhan Carbamoyl
phosphate
- Ribulose-5- 6-phosphogluconate Glucose-6-phosphate
Phosphoglucomutase Glucose-1- uridyltransferase Galactose-1- 14 Galactokinase Galactose
synthetase II phosphate Glucose-6- 2 phosphate phosphate
syndrome Fratemtinq
step)
phosphate
=
dehydrogenasecratelitmejfn, Sucrose
UDP-galactose UDP-glucose
ADP ATP
Aldose
reductase
Glucose
-

Carbamoyl phosphate Ribose-5- FEI Ernie

Fructose- Hexokinase Galactitol
4 Severe combined troctuooetiobirhwphatauez Fructose
immunodeficiency Aspartate Dihydroorotate
phosphate Transketolase Transketolase
| ATP
6-phosphate
a Pi
( Normal)

¥:*:*:
y Low activity 4-epimerase

|
* *

dehydrogenase PRPP me

{
metabolismo)
synthetase ↳ ADP
deficiencias intructoue

(SCID) 1 UMP synthetase

'
PFK-1
l bisphosphatase
EN
Fructose-1,6- ATP
Fructokinase 16
Orotic acid PRPP
Fructose-1,6-bisphosphate
- -
Clever )
ADP
5 Ornithine UMP
PRPP
amido-
- Fructose-
1-phosphate
transcarbamylase transferase
-

"" " " ""

Éter
"

Aldolase B 17
UDP Glyceraldehyde- Dihydroxyacetone
deficiency IMP 3-phosphate phosphate (DHAP) Fructose
Ribonucleotide
reductase Triokinaoe metabolism
6 Phenylketonuria dUDP CTP ①
Glyceraldehyde
NAD+ centra)
AMP GMP -

Fatty
7 Alkaptonuria
5,10- Purine metabolism NADH miel
②
Glycerol
Acyl-CoA synthase Fatty Fatty acid metabolism
- methylene

ÜÜ¥¥"
THF dUMP Acyl-CoA
Ns MÍETHF Thymidylate 2¥ 1,3-bisphosphoglycerate
Acyl-carnitine
-
.

synthase "

8 Albinism ÍTHF Ribose-5- pn.pnaqe.at

ADP COA
CAT I
y Carnitine Cytosol
.

Dihydrofolate DHF
18
DTMP kinaoe

reductase phosphate ATP Triglycerides

9 Maturity onset storage
( in

3-phosphoglycerate adipooetiiru)

|
diabetes of the young Mit. Matrix
GMP IMP AMP Fatty acids
" CAT II

:
2-phosphoglycerate Carnitine Acyl-carnitine
10 Von Gierke disease Guanosine HGPRT
Inosine
4 ADA
Adenosine GTP GDP Fatty acid
3 APRT *
synthase Acyl-CoA

11 Pyruvate kinase Guanine PRPP Hypoxanthine Phosphoenolpyruvate

Malonyl-CoA FADH2
19 Acyl-CoA
dehydrogenase
Phosphoenolpyruvate ADP
.mn#q
Xanthine
deficiency oxidase PRPP carboxykinase 11 Pyruvate
kinase Acetyl-CoA
NADH

Xanthine Adenine carboxylase EE

Xanthine 1*0-0*2 ATP - Acetyl-CoA
12 Pyruvate oxidase
Uric acid
Gluconeogenesis
mmmm
wvr
Pyruvate
(
Ratelimtmy
otep )

Cholesterol synthesis
_

Cytoool
dehydrogenase Purine salvage pathway Lactate
dehydrogenase µ
"
Pyruvate 12
dehydrogenase
CLDH )
? Cholesterol
deficiency NADH "

Urine Oxaloacetate
"

ÜNAD+
"
"

"
E. E. E.
'

II
*
*

Acetyl-CoA
NADH %EE.EE#irFatteHteaak%eE }
Lactate
:*
12C )
Mevalonate
13 Lactose intolerance NH3 + CO2+ ATP Aspartate NAD+ Malate
dehydogenase
Oxaloacetate
( 4C)
Citrate synthase )
Ínfimo! iiii.ee?-lRatehmtinaoenz4me
Carbamoyl Citrulline Argininosuccinate NADH HMG-CoA reductase
phosphate synthase
-
→*
un

synthetase I
5 Ornithine Malate Malate Citrate ( GC)
14 Galactokinase
-

NAD
-
+
-

transcarbamylase 14C ) Acetoacetyl-CoA HMG-CoA

(
Ratehmitinq Carbamoyl Fumaran

deficiency Step) Argininosuccinate TCA cycle Isocitrate ( GC )

phosphate Argininosuccinate Fumarate(4C) → ATP
Acetoacetate ( ketonebody)
*

{
lyase NAD+

°*""""ÜÉÜ✓
FADH2 → Etc
Isocitrate Ratelimtinoj
Ornithine
Y
Succinate ( NADH + CO
mm

{
dehydrogenase
15 Classic galactosemia Arginine
dehydrogenase FAD un "
2

Succinate " " α-Ketoglutarate β-hydroxybutyrate

GTP NAD+

16 Essential fructosuria Urea cycle Urea Arginase Juccinyl - LOA GDP α-Ketoglutarate qq.IE
NADH
un
+ CO2
dehydrogenase ⑦ ( att
"

Ketone metabolism
H2O
un
synthaoe
Succinyl-CoA ( 4C )
17 Fructose intolerance Maleylacetoacetate
.cat#-q*.c,wa,qyenqme Él µ ese rsz Es

5, 10-methylene
Methylmalonyl-CoA THF Methylene Soccincil coa
Pyrimidines
-
-

Homogentisic acid 7 mutase tetrahydrofolate -

a- ketobutyrate
dioxygenase + lipids reductase (MTHFR)
18 Systemic 1° carnitine Thiamine (B1) Homogentisate Melanin Methylmalonyl-CoA 5-methyl
As

}
( Homogentvicaud) Propióarnfljyfaoff THF THF
deficiency Riboflavin (B2) 6 Phenylalanine
hydroxylase ¥y%"
yhlyjaoe
Tyrosinase 8 • " " " ""

① ③ ④ ⑤
Phenylalanine Tyrosine DOPA
Niacin (B3) DOPA
① 9¥!:[ Propionyl-CoA Methionine
Methionine
Homocysteine
21 Cystathionine
Cystathionine
Cystathionase
Cysteine
www BH4 .Hetrahydrobiopterin
19 MCAD deficiency
a

BH2 Dihydrobiopter ) BH4 BH2 decarboxylase ¥¥÷¥Í¥!¥¥¥¥¥÷µ synthase

Pantothenic acid (B5) synthase
"

) (
"

somodnleueb.tk Branched-chain
Medium Chain Acyl CoA Dehydrogenaoe )
α-ketoacid dehydrogenase
Dopamine S-adenosyl ② S-adenosyl
-

NADT g -

Pyridoxine (B6)
NADÉ-
complex
NADA
EH
6 Dihydrobiopterin 6 Dihydrobiopterin 20 @
methionine (SAM) homocysteine
20 Maple syrup urine reductase reductase
B"

α-ketoacid
B?
Ligia
B2
B1
Yoü
"

000 Dopamina B- Hydroxylasl

Ea Nar

Biotin (B7)
.

)
Qddchaintattyacids
disease
(

Norepinephrine ) un ATP
Folate (B9) ÑAM
mislcotaotor
Phenylethanolamine-
(✓ OMITJ-AProp.com/coA
• Valine
Cobalamin (B12) Amino acid metabolism Methylation
N-methyltransferase Homocysteine metabolism
21 Homocystinuria • Isoleucine
-

Epinephrine
-

• Leucinl
00 Y ltamin C netnomne

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