3.01

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.

3.01.a

Disorders of pyrimidine metabolism

This section covers rare inherited disorders of pyrimidine metabolism, including…
3.01.b

Disorders of purine metabolism

This section covers rare inherited disorders of purine metabolism, including…
3.01.c

Disorders of ectonucleotide and nucleic acid metabolism

This section covers rare inherited disorders of ectonucleotide and nucleic…
3.01.d

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

This section covers rare inherited disorders of non-mitochondrial tRNA processing…
3.01.e

Disorders of ribosomal biogenesis

This section covers rare inherited disorders of ribosomal biogenesis, including…

Subnetworks

Immagini SNW 344 x 258 px 1

NOMS

Disorders of neuromodulators and other small molecules

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