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Biochem Pathways

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Ian McDaniels

on 20 January 2013

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Transcript of Biochem Pathways

Glucose-6-Phosphate Fuctose-6-phosphate Glucose Fructose-1,6-bisphosphate DHAP Glyceraldehyde-3-P 1,3-bis-phosphoglycerate 3-phosphoglycerate 2-phosphoglycerate PEP Pyruvate Lactate Acetyl-CoA Citrate Isocitrate alpha-ketoglutarate Succinyl-CoA Succinate Fumarate Malate Oxaloacetate Arginosuccinate Aspartate Citrulline Ornithine Arginine Carbamoyl
phosphate NH4 + CO2 H2O Urea Fructose F1P Glyceraldehyde glucose-1-phosphate UDP Glucose Glycogen Galactose-1-phosphate galactose 6-phosphogluconolactone Ribulose-5-phosphate Acetoacetyl-CoA Malonyl-CoA HMG-CoA Fatty Acids Mevalonate Cholesterol Acetoacetate beta-hydroxybutyrate TCA Urea Glycolysis HMP Shunt (Odd-chain fatty acids
+ branched-chain amino acids) propionyl-CoA Methylmalonyl-CoA hexo/glucokinase glucose-6-phosphatase von Gierke's G-6-phophatase dehydrogenase G6PD deficiency galactokinase mild galactosemia galactose-1-phosphate uridyltranferase severe galactosemia PFK-1 fructose-1,6-bisphosphatase aldolase B fructose intolerance fructokinase pyruvate kinase pyruvate dehydrogenase pyruvate
carboxylase citrate sythase PEP
carboxykinase isocitrate dehydrogenase alpha-ketoglutarate dehydrogenase ornithine transcarbamoylase HMG-CoA
reductase essential fructosuria ALT Alanine carry amino
groups to liver LDH G-6-P/F-6-P (-) ATP, citrate (-)
AMP, F-2,6-BP (+) ATP, Acetyl-CoA, NADH (-) ATP (-) ATP, NADH (-)
ADP (+) Succinyl-CoA, NADH, ATP (-) CO2 + NADH CO2 + NADH GTP + CoA FADH2 NADH OTC deficiency aldose reductase, NADPH sorbitol sorbitol dehydrogenase, NAD+ phosphoglucomutase lysosomal alpha-1,4-glucosidase (II) Pompe's disease glycogen phosphorylase glycogen phosphorylase, debranching enzyme McArdle's disease McArdle's disease Cori's Disease argininosuccinate
synthetase argininosuccinase arginase (deficiencies in cycle
cause hyperammonemia) Phenylalanine Tyrosine Dopa Dopamine Norepinephrine Epinephrine phenylalanine hydroxylase Tyrosine hydroxylase Dopa decarboxylase (B6) Dopamine beta-hydroxylase (vit C) PNMT (SAM)
Cortisol (+) HVA VMA Metanephrine carbidopa (-) tyrosine transaminase p-Hydroxyphenylpyruvate homogentisate maleylacetoacetate fumarylacetoacetate homogentisic acid oxidase alkaptonuria tyrosinase albanism Melanin Methionine SAM homocysteine cystathionine alpha-ketobutyrate methylmalonyl CoA mutase methylmalonyl CoA mutase deficiency Maple syrup urine disease
(blocked degredation on branched AAs - Ile, Leu, Val) cystathionine synthase (B6) homocystinuria pregnenolone 3beta-hydroxysteroid dehydrogenase progesterone 11-deoxycorticosterone corticosterone Aldosterone 17-hydroxypregnenolone 17-hydroxypreogesterone DHEA androstenedione estrone estradiol testosterone 11-deoxycortisol cortisol 17alpha-hydroxylase 17-alpha-hydroxylase 17-alpha-hydroxylase deficiency
hypertension, phenotypic female 17-alpha-hydroxylase deficiency
hypertension, phenotypic female 21-hydroxylase deficiency
hypotension, masculinization 21-hydroxylase 21-hydroxylase deficiency
hypotension, masculinization 21-hydroxylase 11beta-hydroxylase deficiency
hypertension, masculinization 11beta-hydroxylase 11beta-hydroxylase deficiency
hypertension, masculinization 11beta-hydroxylase aromatase 5alpha-reductase DHT desmolase ACTH (+) Ketoconazole (-) Nucleic Acids Guanylic acid (GMP) Guanine Guanosine Xanthine Uric Acid Hypoxanthine Inosinic Acid (IMP) Adenylic acid (AMP Nucleic acids Adenine Inosine Adenosine HGPRT + PRPP HGPRT + PRPP APRT + PRPP Xanthine oxidase Xanthine oxidase ADA Lesch-Nyhan Lesch-Nyhan SCID Purine Salvage Ribose 5-P PRPP Orotic acid UMP UDP dUDP CTP dUMP Thymidylate synthase dTMP DHF DHF reductase THF N5N10 Methylene THF ribonucleotide reductase hydroxyurea (-) Carbamoyl phosphate 5-FU (-) methotrexate (-) TMP (-) (in bacteria) De novo pyrimidine
and purine synthesis (B1) (B1) (B1) (B1) * * * * * * * * * * PFK-2 FBF-2 Fructose-1,6-bisphosphate active in fed state active in fasting state (+) (Biotin) (GTP) lactating mammary glands
adrenal cortex
RBCs hyopglycemia
vomiting Galactose in blood and urine
infantile cataracts
failure to track objects or develop social smile failure to thrive
infantile cataracts
mental retardation phenylketonuria mental retardation
growth retardation
fair skin
musty body odor dark connective tissue
brown pigmented sclera
urine turns black upon prolonged exposure to air
debilitating arthralgias homeocysteine methyltransferase (B12) homocysteine in urine
mental retardation
tall stature
lens subluxation
atherosclerosis severe CNS defects
mental retardation
death severe fasting hypoglycemia
increased glycogen in liver
increased blood lactate
hepatomegaly cardiomegaly
systemic findings
early death Milder form of Von Gierke's
normal blood lactate levels Increased glycogen in muscle
BUT can't break glycogen down
leads to painful muscle cramps
myoglobinuria with strenuous exercise GM2 GM3 Glucocerebroside Ceramide Sphingomyelin Galactocerebroside Sulfatides Ceramide trihexoside X Tay-Sachs X Fabry's X Niemann-Pick Krabbe's X Metachromatic leukodystrophy X Gaucher's X Lysosomal storage diseases Autosomal resessive
Progressive neurodegeneration
developmental delay
cherry-red spot on macula
lysosomes with onion skin X-linked resessive
Peripheral neuropathy of hands/feet
cardiovascular/renal disease Autosomal recessive
Progressive neurodegeneration
cherry-red spot on macula Autosomal resessive
Peripheral neuropathy
developmental delay
optic atrophy
globoid cells --Most Common--
Autosomal resessive
aseptic necrosis of femur
bone crises
Gaucher's cells Autosomal ressesive
Central and peripheral demyelination with ataxia
dementia Orotic aciduria orotic acid in urine
megaloblastic anemia
failure to thrive
NO hyperammonemia (vs OTC deficiency) B12 Acetyl-CoA carboxylase (Biotin) pyruvate dehydrogenase deficiency lactic acidosis
neurological defects
Txt: ketogenic nutrients (Lysine and Leucine) lack of sorbitol dehydrogenase (schwann cells, lens, retina, kidneys) cataracts, retinopathy, peripheral neuropathy, chronic hyperglycemia seen in diabetes X-linked
orotic acid in blood and urine
low BUN
symptoms of hyperammonemia (eyes, organomegaly, neuro) alpha-galactosidase A Glucocerebrosidase Sphingomyelinase Hexosaminidase A galactocerebrosidase Arylsulfatase A Hurler's syndrome (a mucopolysaccharidosis)
autosomal recessive
developmental delay
airway obstruction
cornial clouding
hepatosplenomegaly Hunter's syndrome (a mucopolysaccharidosis)
Mild Hurler's
+ aggressive hehavior
NO corneal clouding
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