- product of pyrimidine degradation

B-alanine (useful metabolite)

- product of purine degradation

Uric Acid (toxic waste product)

- formed from Pentose Phosphate Pathway via ribose 5-phosphate

- made by enzyme ribose phosphate phosphofructokinase

PRPP (5'-phosphoribosyl 1-pyrophosphate)

- shortage of PRPP causes this

- x-linked

- mental retardation

Art's Syndrome

- too much PRPP

- decreased excretion of Uric Acid

- urate crystals deposit in joints and renal tissue

Gout

- ATP requirement for the salvage synthesis from base to nucleotides by reattaching ribose

Zero

- committed step of pyrimidine synthesis includes the combination of carbamoyl phosphate and what to create the pyrimidine ring (base)

Aspartate

- from carbomoylaspartate to orotate these two biproducts are given off in succession

H20 (from H+OH) and NADH + H (from NAD)

- severe (megaloblastic) anemia

- defect in UMP synthase

- autosomal recessive, hereditary

- "de novo" synthesis problem

- treated with pyrimidine analogs in diet

- unresponsive to B12 and Folate

- diagnosed by orotic acid in urine

Orotic aciduria

- product of oritate and PRPP

OMP (orotidine monophosphate)

+

PPi

- converts UMP to UDP by transferring a phosphate from ATP

UMP kinase

- transfers a phosphate to any diphosphate nucleoside from and triphosphate

Nucleoside diphosphate kinase

- product of amination of UTP by way of Glutamine/Glutamate NH3

CTP (Cytosine)

- inhibits RR (ribonucleotide reductase)

- used as an anti-inflammatory and anticancer agent

hydroxyurea

- the enzyme needed to convert ribosomal nucleotides to DNA nucleotides

ribonucleotide reductase (RR)

- dUMP --> TMP requires thymidylate synthase which adds a methyl group to dUMP from this molecule

methylene THF

- this is required to convert UTP to CTP via the addition of NH2 from Glutamine

ATP

- hereditary autosomal recessive

- hemolytic anemia

- accumulation of pyrimidine nucleotides

- characteristic UV spectrum of deproteinized erythrocytes

- mimicked by lead poisoning

pyrimidine 5' nucleotidase (P5N) deficiency

- hereditary autosomal recessive

- non-specific cerebral disorder with convulsions

- diagnosed by excretion of pyrimidines in urine

- no treatment

dyhydropyrimidine dehydrogenase deficiency