Phenylalanine Degredation
Alcaptonuria
Phenylketonuria
Defect Associated with Phe Metabolism
Tyrosinemia Type I
When Fumarylacetoacetate Hydrolase accumulates it gets reduced to Succinylacetoacete (diagnostic) which leads to kidney and liver damage.
Tyrosinemia Type II
Treatment of Type II just stops production of homogentisiic acid
Biopterin Cycle
Neurotransmitter Structures
Neurotransmitter Structures Pt. II
An OTC Defect may interfere with the synthesis of which neurotransmitter in the brain?
GABA
Acetylcholine
Epinephrine
Serotonin
Glycine
GABA
Homocysteinemia/uria Pathway
Homocysteinemia/uria Features
Causes of Elevated Homocysteine
What does Homocysteine Do?
Treatments for Elevated Homocysteine
Which reaction requires both Folate and B12?
Succinate to Succinyl CoA
SAH to Homocysteine
Homocysteine to methionine
Homocysteine to Cystathionine
Homocysteine to methionine
Homocysteine and Neural Tube Defects
What about Vitamin B12
The use of methylmalonic acid for fatty acid biosynthesis will lead to which one of the following?
Short Chain Fatty Acids
Odd Chain Fatty Acids
Branched Chain Fatty Acids
Very Long Chain Fatty Acids
No Fatty Acids will be Synthesized
Branched Chain Fatty Acids
B12 and Folate Deficiencies
Liver and B12 Deficiencies
The classic finding in someone with b12 deficiency is megaloblastic anemia— large immature blood cells. Why?
Inability to make homocysteine
Inability to Make Succinyl CoA
Inability to make DNA
Inability to Make RNA
Inability to make DNA
Branch Chain Amino Acids
Branch Chained Amino Acids Pt. II
Branch Chained Amino Acids Pt. III
Branch Chained Amino Acid Metabolism
Glycine Metabolic Disorders
Non-Ketotic Hyperglycinemia
Hyperglycemia may also result from which one of the following?
PKU
B12 Deficiency
Vitamin C Deficiency
B1 Deficeincy
Using an MAO inhibitor
OTC Deficiency
B12 Deficiency — Leads to functional folate deficiency and the formation of glycine its conversion to serine requires folate.
Biosynthesis of Heme
Synthesis of Gamma Aminolevulinic Acid
Lead Poisoning
Heme Synthesis Pt. II
Defects in Heme Biosynthesis
Heme Degredation
Regulatory Aspects of Amino Acid Degredation
Role of Alanine in Muscle Amino Acid Degredation
Amino Acid Flux Between Tissues
Maple Syrup Urine Disease.