3.1

Disorders of nucleobase, nucleotide and nucleic acid metabolism

The group of pyrimidine and purine metabolism disorders includes disorders in the de novo synthesis, salvage and breakdown of nitrogenous bases, nucleosides and nucleotides. Additionally, this group includes disorders related to ectonucleotides, as well as the metabolism of nucleic acids, non-mitochondrial tRNA and rRNA metabolism.
These metabolic disorders can lead to various health issues, including immune deficiencies, neurodevelopmental disorders, epilepsy and muscle weakness, underscoring the critical role of nucleotide metabolism in overall cellular function and health.

3.1.a

Disorders of pyrimidine metabolism

CAD trifunctional protein deficiency Dihydroorotate dehydrogenase deficiency (Postaxial acrofacial dysostosis;…
3.1.b

Disorders of purine metabolism

Phosphoribosylpyrophosphate synthetase superactivity Phosphoribosylpyrophosphate synthetase deficiency Phosphoribosylaminoimidazole carboxylase deficiency Adenylosuccinate lyase…
3.1.c

Disorders of ectonucleotide and nucleic acid metabolism

3′ repair exonuclease 1 deficiency (Aicardi-Goutières syndrome type 1; familial…
3.1.d

Disorders of non-mitochondrial tRNA processing and aminoacyl-tRNA synthetases

tRNA splicing endonuclease subunit 2 deficiency (Pontocerebellar hypoplasia type 2B)…
3.1.e

Disorders of ribosomal biogenesis

Treacher Collins syndrome type 1 Treacher Collins syndrome type 2…

Subnetworks

Immagini SNW 344 x 258 px 1

NOMS

Disorders of neuromodulators and other small molecules

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