Hereditary metabolic diseases

Hereditary metabolic diseases (HMDs) are a group of rare genetic disorders. The genetic defect causes a structural alteration in a protein that is involved in one of the metabolic pathways, causing it to block the affected pathway. As a consequence, this causes a build up of substances that may be toxic for the body and a deficiency of others that it needs.

Malalties metabòliques hereditàries a Vall d'Hebron
Authorship: Vall d'Hebron
Creation date: 17.12.2021, 10:03
Modification date: 31.01.2022, 13:39
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