3.02

Disorders of tetrapyrrole metabolism

This group includes disorders of heme synthesis, porphyrias as well as disorders involving the products of heme breakdown such as biliverdin and bilirubin. Porphyrias are caused by defective enzimatic activity in the heme biosynthetic pathway, leading to the accumulation of intermediates that genarally have an effect on the nervous system or the skin. Disorders of heme breakdown, instead, are due to deficiencies in the enzymes which are part of the degradation pathway of the heme moiety. Common symptoms include hyperbilirubinemia, hypoxia and jaundice.

This section covers rare inherited disorders of heme synthesis and…
This section covers rare inherited disorders of heme degradation and…

Subnetworks

Immagini SNW 344 x 258 px 1

NOMS

Disorders of neuromodulators and other small molecules

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