E79.8 - Other disorders of purine and pyrimidine metabolism

Approximate Synonyms

The following clinical terms are approximate synonyms or lay terms that might be used to identify the correct diagnosis code:

• 5-amino-4-imidazole carboxamide ribosiduria
• Adenine phosphoribosyl transferase deficiency type I
• Adenine phosphoribosyl transferase deficiency type II
• Adenylosuccinate lyase deficiency
• APRT deficiency, Japanese type
• Beta-aminoisobutyric aciduria
• Combined molybdoflavoprotein enzyme deficiency
• Congenital anomaly of macula
• Cytosine diphosphate choline phosphotransferase deficiency
• Deficiency of 3'-nucleotidase
• Deficiency of 5'-nucleotidase
• Deficiency of adenine deaminase
• Deficiency of allantoicase
• Deficiency of allantoinase
• Deficiency of AMP deaminase
• Deficiency of AMP nucleosidase
• Deficiency of AMP pyrophorylase
• Deficiency of aspartate carbamoyltransferase
• Deficiency of beta-ureidopropionase
• Deficiency of cytidine deaminase
• Deficiency of dihydrouracil dehydrogenase
• Deficiency of DNA repair
• Deficiency of glycine formiminotransferase
• Deficiency of GMP synthase
• Deficiency of phosphoribosylaminoimidazole carboxylase
• Deficiency of phosphoribosylaminoimidazolecarboxamide formyltransferase
• Deficiency of phosphoribosylaminoimidazole-succinocarboxamide synthase
• Deficiency of phosphoribosylformylglycinamidine cyclo-ligase
• Deficiency of phosphoribosylformylglycinamidine synthase
• Deficiency of thymidine phosphorylase
• Deficiency of trimetaphosphatase
• Deficiency of uridine phosphorylase
• Deficiency of xanthine oxidase
• Dihydropyrimidinase deficiency
• Dihydropyrimidine dehydrogenase deficiency
• DNA repair
• Hereditary orotic aciduria
• Hereditary orotic aciduria, type 1
• Hereditary orotic aciduria, type 2
• Hereditary xanthinuria
• Hereditary xanthinuria type 1
• Hyperuricuria
• Hypouricemia
• Inosine triphosphate pyrophosphohydrolase deficiency
• Isolated xanthine oxidase deficiency
• Molybdenum cofactor deficiency complementation group A
• Molybdenum cofactor deficiency complementation group B
• Molybdenum cofactor deficiency complementation group C
• NUDT15 deficiency
• Orotic aciduria
• Phosphoribosylpyrophosphate synthetase superactivity
• Ribose-phosphate pyrophosphokinase overactivity
• Secondary orotic aciduria
• Uridine monophosphate hydrolase deficiency
• Xanthinuria

Clinical Information

• DNA End-Joining Repair-. the repair of double-strand dna breaks by rejoining the broken ends of dna to each other directly.
• DNA Repair-. the reconstruction of a continuous two-stranded dna molecule without mismatch from a molecule which contained damaged regions. the major repair mechanisms are excision repair, in which defective regions in one strand are excised and resynthesized using the complementary base pairing information in the intact strand; photoreactivation repair, in which the lethal and mutagenic effects of ultraviolet light are eliminated; and post-replication repair, in which the primary lesions are not repaired, but the gaps in one daughter duplex are filled in by incorporation of portions of the other (undamaged) daughter duplex. excision repair and post-replication repair are sometimes referred to as "dark repair" because they do not require light.
• DNA Repair Enzymes-. enzymes that are involved in the reconstruction of a continuous two-stranded dna molecule without mismatch from a molecule, which contained damaged regions.
• DNA Repair-Deficiency Disorders-. disorders resulting from defective dna repair processes or the associated cellular responses to dna damage.
• O(6)-Methylguanine-DNA Methyltransferase-. an enzyme that transfers methyl groups from o(6)-methylguanine, and other methylated moieties of dna, to a cysteine residue in itself, thus repairing alkylated dna in a single-step reaction. ec 2.1.1.63.
• Rad52 DNA Repair and Recombination Protein-. a dna-binding protein that mediates dna repair of double strand breaks, and homologous recombination.
• Recombinational DNA Repair-. repair of dna damage by exchange of dna between matching sequences, usually between the allelic dna (alleles) of sister chromatids.
• Dihydropyrimidine Dehydrogenase Deficiency-. an autosomal recessive disorder affecting dihydropyrimidine dehydrogenase and causing familial pyrimidinemia. it is characterized by thymine-uraciluria in homozygous deficient patients. even a partial deficiency in the enzyme leaves individuals at risk for developing severe 5-fluorouracil-associated toxicity.
• DNA-. a deoxyribonucleotide polymer that is the primary genetic material of all cells. eukaryotic and prokaryotic organisms normally contain dna in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. dna, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).
• Hereditary Orotic Aciduria-. an extremely rare autosomal recessive inherited disorder caused by mutations in the umps gene. it is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (ump) synthase. clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine.

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Patient Education

Metabolic Disorders

Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues, such as your liver, muscles, and body fat.

A metabolic disorder occurs when abnormal chemical reactions in your body disrupt this process. When this happens, you might have too much of some substances or too little of other ones that you need to stay healthy. There are different groups of disorders. Some affect the breakdown of amino acids, carbohydrates, or lipids. Another group, mitochondrial diseases, affects the parts of the cells that produce the energy.

You can develop a metabolic disorder when some organs, such as your liver or pancreas, become diseased or do not function normally. Diabetes is an example.

Code History

• FY 2023 - No Change, effective from 10/1/2022 through 9/30/2023
• FY 2022 - No Change, effective from 10/1/2021 through 9/30/2022
• FY 2021 - No Change, effective from 10/1/2020 through 9/30/2021
• FY 2020 - No Change, effective from 10/1/2019 through 9/30/2020
• FY 2019 - No Change, effective from 10/1/2018 through 9/30/2019
• FY 2018 - No Change, effective from 10/1/2017 through 9/30/2018
• FY 2017 - No Change, effective from 10/1/2016 through 9/30/2017
• FY 2016 - New Code, effective from 10/1/2015 through 9/30/2016 (First year ICD-10-CM implemented into the HIPAA code set)