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Glycolysis :red_flag:, triacylglycerol, Glucose, amino acids, acetoacetate…
Glycolysis :red_flag:
triacylglycerol
fatty acyl CoA
acyl CoA
malonyl CoA
Acetyl CoA
glycerol
fatty acids
glycerol phosphate
Cystic fibrosis (CF)
This autosomal recessive disorder is caused by mutations to the gene for the CF transmembrane conductance regulator (CFTR) protein that functions as a chloride channel on epithelium.
Glucose
Glucose 6-P
Fructose 6-P
Fructose 1,6-bis-P
Glyceraldehyde 3-P
1,3-bis-Phosphoglycerate
3-Phosphoglycerate
2-Phosphoglycerate
Phosphoenolpyruvate
Pyruvate
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serine
glycerine
cysteine
methionine
Dihydroxyacetone 3-phosphate
Glucose 1-P
Galactose 1-P
Galactose
CLASSIC GALACTOSEMIA
• Galactose 1-phosphate uridyltransferase (GALT) deficiency.
GALACTOKINASE DEFICIENCY
Causes elevation of galactose in blood (galactosemia) and urine (galactosuria)ENCY
UDP-Glucose
Glycogen
Glucogen storage diseases
TYPE Ia: VON GIERKE DISEASE (GLUCOSE 6-PHOSPHATASE DEFICIENCY)
TYPE Ib: GLUCOSE 6-PHOSPHATE TRANSLOCASE DEFICIENCY
TYPE II: POMPE DISEASE (LYSOSOMAL α(1→4)-GLUCOSIDASE DEFICIENCY)
TYPE III: CORI DISEASE (4:4 TRANSFERASE and/or 1:6 GLUCOSIDASE DEFICIENCY)
TYPE V: McARDLE SYNDROME (SKELETAL MUSCLE GLYCOGEN PHOSPHORYLASE OR MYOPHOSPHORYLASE DEFICIENCY)
6-Phosphate Gluconolactone
6-P gluconate
Ribulose 5-Phosphote
Xylulose 5-Phosphate
Sedoheptulose 7-P
Erythrose 4-P
Ribose 5-P
Glyceraldehyde 3-P
Favism
Due to G6PD
deficiency, susceptible to the hemolytic effect of the fava (broad) bean,
Sorbitol
Fructose
Fructose 1-Phosphate
Glyceraldehyde
ESSENTIAL FRUCTOSURIA
• Lack of fructokinase.
HEREDITARY FRUCTOSE INTOLERANCE
Absence of aldolase B leads to intracellular trapping of fructose
5-Phosphoribose
Histidine
amino acids
purines
uric acid
GOUT
This disorder is characterized by hyperuricemia with recurrent attacks of acute arthritic joint inflammation, caused by deposition of mono-sodium urate crystals.
GABA, glutathione, Heme, NAD, NADP, serotonine, melatonine, nore-epinephrine, epinephrine, histamine, melanine, pyrimidines, creatine, thyroxine, sphingosine
ceatinine
ammonia
acetoacetate
B-hydroxybutyrate
acetone
citrulline
argininosuccinate
arginine
urea
citrullinemia
due to mutation in gene of arginosuccinate synthase 1
ornithine
NH3
Urea Cycle :red_flag:
Hyperammonemia
The capacity of the hepatic urea cycle exceeds the normal rates of ammonia generation, and the levels of serum ammonia are normally low (5–35 µmol/L).
citruline
carbamoyl phosphate
H2CO3
cholesterol
lanosterol
2,3-oxidosqualine
squalene
farnesyl-PP
geranyl PP
isopentenyl-5 pyrophosphate
mevalonate-5-pyrophosphate
mevalonate 5-phosphate
mevalonic acid
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dimethylallyl-PP
geranylgeranly-PP
prenylated proteins
TCA cycle :red_flag:
Glycogenesis :red_flag:
Galactose metabolism :red_flag:
Glycogenolysis :red_flag:
Fructos Metabolism :red_flag:
Pentose Phophate Pathway :red_flag:
Gluconeogenesis:red_flag:
lipolysis :red_flag:
lipogenesis :red_flag:
Cholesterol synthesis :red_flag:
Keton bodies metabolism :red_flag:
MAPLE SYRUP URINE DISEASE
The disease is due to a deficiency in branchedchain α-keto acid dehydrogenase.
Carnitine deficiencies
primary Carnitine deficiencie is caused by defect in membrane transporter that inhibit uptake of carnitine by cardiac and skeletal muscle
secondary Carnitine deficiencie caus as a result of defect in fatty acid oxidation
acquired secondary Carnitine deficiencie in patient with liver diseases or those taking antiseizure drugs
Ketoacidosis
In uncontrolled type 1 Diabetes Mellitus or excessive ethanol consumption