Topnotch 2 Flashcards
Protein turnover per day
200-300/day
Protein degradation mechanism inside the cell, using non energy dependent degradative enzyme
ubiquitin proteosome mechanism
Manner of excretion of excess nitrogen by humans
Ureotelic
using urea
2 steps in Nitrogen removal
- Transamination
2. Oxidative Deamination
All amino acids must transfer amino groups to a-ketoglutarate except for (2)
Lysine
Threonine
Coenzyme of ALT and AST
Vit B6 (Pyridoxine)
Asp acted by AST –>____
oxaloacetate
Ala acted upon by ALT —> _____
pyruvate
where oxidative deamination occurs
LIVER and KIDNEY only
Removal of excess N from peripheral tissues is through
GLUTAMINE
garbage collector
where urea cycle occurs
liver
Donors of atoms of Urea
NH3 from ammonia
NH3 from aspartate
CO2
Enzyme in rate limiting step of Urea cycle
CPS-I
Carbamoyl Phosphate Synthase I
Reactions in Urea Cycle
Ordinary Careless Crappers Are Also Frivolous About Urination
Ornithine +
Carbamoyl Phosphate= Citruline
Citruline
+ Aspartate –>Arginosuccinate
Fumarate + Arginine
Arginine = Urea + Ornithine
Energy requirement of urea cycle
4 ATPs
Enzyme defect in Hereditary Hyperammonemia Type I (most common), presenting with lethargy, vomiting, coma and death
CPS I
Enzyme defect in Hereditary Hyperammonemia Type II
Ornithine transcarbamoylase
Purely ketogenic amino acids
Leucine
Lysine
Amino acids both ketogenic and glucogenic
Phenylalanine
Tyrosine
Tryptophan
Isoleucine
FYI, W
Yield by ketogenic amino acid metabolism
acetoacetate
acetyl CoA
Entry point in Krebs is Fumarate
Phenylalanine and Tyrosine
Entry point in Krebs of
Glutamine, Glutamate, Proline, Arginine, Histidine
a ketoglutarate
Entry point in Krebs of Methionine, Valine. Isoleucine, Threonine
Succinyl CoA
Entry point in Krebs is oxaloacetate
Aspartate, Asparagine
Amino acid Glycine is made from
Serine
Proline is synthesized from
Glutamine
Serine is synthesized from
3-phosphoglycerate
Cofactor of Phe hydroxylase hence deficiency can manifest like PKU
Tetrahydrobipterin
Alkaptonuria is due to congenital deficiency of _____
Homogentisic Acid Oxidase
in the degradative pathway of Tyrosine
darkening of connective tissue seen in alkaptonuria
ochronosis
congenital deficiency of TYROSINASE or defective TYROSINE transporters
Albinism
Occurs to either:
cystathionine synthase deficiency
or its dec affinity for Vit B6
homocysteine methyltransferase deficiency
homocystinuria
Causes downward and inward lens subluxation, tall stature, MR
Homocytinuria
Defect of tubular amino acid transporter for COLA
cystinuria
Treatment of Cystinuria
Acetazolamine (to alkalinize the urine)
Enzyme deficient in MSUD
a-ketoacid dehydrogenase
Predominant sites of heme synthesis
Liver
Bone marrow
Rate limiting step of Heme Synthesis
Formation of delta aminolevulinic acid
catalyzed by ALA synthase
Co-factor of ALA synthase (*heme synthesis)
pyridoxine
Photosensitivity
Abdominal pain
Neuropsych symptoms
Most common porphyria
porphyria cutanea tarda
reaction heme synthesis
glycine + succinyl CoA —> d-aminolevulinic acid
Enzyme of heme synthesis inhibited by zinc
ALA dehydratase
in the formation of porphobilinogen
Heme synthesis, start of the RING
Uroporphyrinogen
Enzyme of heme synthesis inhibited by lead
ferrochelatase,
ALA dehydratase
How is heme formed
(Fe 3+) into protoporphyrin IX
by heme synthase
Blood picture pyridoxine deficiency associated with isoniazid therapy
Sideroblastic anemia with ringed sideroblasts
Wrist drop, claw hand
basophilic stippling RBC
lead poisoning
start of photosensitivity enzyme heme synthesis
Uroporphyrinogen decarboxylase
Glucoronic acid + N acetyl glucosamine
Hyaluronic acid
GAG Vitreous humor, synovial fluid
Hyaluronic acid
GAG Glucoronic acid + N acetyl galactosamine
Chondroitin Sulfate
GAG Iduronate + Glucosamine
Heparin
All GAGs covalently attached to protein to form proteoglycans except
Heparin
GAG in endochondral bone also cartilage
chondroitin sulfate
GAGs role in corneal transparency
Keratan sulfate I
Dermatan sulfate
GAG impt in charge of glomerulus
Heparan sulfate
GAG cell migration in wound repair
compressibility of cartilage
Hyaluronic acid
Where GAGs are synthesized
ER
by acid hydrolases
Accumulation of GAGs in lysosomes due to deficiency in hydrolases
Mucopolysaccharidoses
Mucopolysaccharidoses all are autosomal recessive except
Hunters
X linked recessive
Mucopolysaccharidoses all have MENTAL RETARDATION except
Morquio’s syndrome
Deficient in Morquio’s syndrome
galactose-6-sulfatase
Deficient in Hurler’s syndrome
a-L-iduronidase
Type II Mucopolysaccharidoses
Sanflippo syndrome
so many!! refer to p 7 handout 2
Function of glycoproteins
cell recognition
cell antigenicity
Deficient phosphorylation of mannose residues in N linked glycoprotein pre enzymes
I-cell disease
protein HIV
gp120 + p41