Aminoacids metabolism and Diseases Flashcards
What is the variable portion in Aminoacids
Side Chain R (Especific for each aminoacid)
What is the constant portion in Aminoacids
Amino group + Carboxylate group (Same for all)
How many essential aminoacids are there?
9
Essential aminoacides
Arginine
Histidine
Leucine
Isoleucine
Lysine
Methionine
Penylalaline
Threonie
Tryptophan
Valine
Which aminoacids are essential Ketogenic
Leucine / Lysine
How do you categorize aminoacids
Whether if they can be degraded to glucose or ketone bodies
What is the main function of Urea Cycle
Conversion of toxic ammonia into non-toxic UREA
Ammonia is the product of
Aminoacid Metabolism (Amino group)
Urea cycle’s reactant
Ammonia and CO
Urea cycle’s final product
- Ornithine
- Urea
Which molecules are necessary in order to convert Ammonia into Urea
ATP and Aspartate
Where does the Urea cycle occur
Mitochondria and Cytosol of Liver Cells
Regulation of Urea Cycle
Allosteric at Carbamoyl Phosphate Synthetase-1
Stimulated by : N-acetylglutamine
Ornithine Transcarbamylase deficiency causes stoppage at which step in Urea Cycle
Last step
Ornithine Transcarbamylase deficiency inheritance pattern
X-Linked Recessive
Lab findings in Ornithine Transcarbamylase deficiency
Increased Ammonia and OROTIC ACID
Decreased BUN
What is the Cahill Cycle function?
Transport of amino groups from AA in muscle into the liver for disposal of AA via Urea Cycle
Which via does Cahill Cycle send AA from muscle to Liver
Alanine
Cori Cycle function
Transport lactate made in muscle into the liver for conversion of Glucose via Gluconeogenesis
PKU is caused by deficiency of
Phenylalaline Hydroxilase
Increased and decreased products in PKU
Increased Phenylalanine
Decreased Tyrosine
PKU clinical features
Intellectual disability/Seizures + ALBINISM + MUSTY ODDOR + Eczema
Diagnosis of PKU can be made by
Detection of Excess Phenyl Ketones in urine
Treatment of PKU
Avoidance of Phenylalanine
Supplementation with Tyrosine
Maple Syrup Disease is caused by deficiency of
Branched-chain Alpha Ketoacid Dehydrogenase
Which AA are branched-chain
Valine, Leucine, Isoleucine.
Treatment of Maple Syrup Disease
Avoidance of Branched-chain aminoacids
Maple Syrup disease clinical features
Fruity urine smell + Intelectual Disability + Vomiting + Seizures
Alkaptonuria is caused by deficiency of
Homogentisate oxidase
Alkaptonuria clinical features
Arthritis + Blue discoloration of Ear/Sclera/Cheeks
Alkaptonuria main feature for diagnosis
Urine turns black when exposed to air
Homocystinuria is caused by deficiency of
Cysthatione Synthase or Metionine Shyntase
Homocystinuria’s clinical features
MARFANOID HABITUS + LENS SUBLUXATION + Atherosclerotic disease + Intelectual disability
Diagnosis of Homocystinuria
Elevated Homocysteine in urine
Cysthatione Synthase needs ___ as cofactor
B6
Methionine Synthase needs ____ as Cofactor
B12
Treatment of Homocystinuria
MS deficiency = Supplementation with Methionine
CS deficiency = Avoidance of methionine and Supplementation with B6
Propionic Acidemia is caused by deficiency of
Propionyl Co-A Carboxylase
Propionic Acidemia clinical features
Poor feedin + Lethargy + Cardiomyopathy
Diagnosis of Propionic Acidemia
Elevated levels of
- Ammonia
- Propionyl Co-A
- Propionic acid
in URINE/BLOOD
