Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H₂S homeostasis.

ABSTRACT: Regulation of H₂S homeostasis in humans is poorly understood. Therefore, we assessed the importance of individual enzymes in synthesis and catabolism of H₂S by studying patients with respective genetic defects. We analyzed sulfur compounds (including bioavailable sulfide) in 37 untreated or insufficiently treated patients with seven ultrarare enzyme deficiencies and compared them to 63 controls. Surprisingly, we observed that patients with severe deficiency in cystathionine β-synthase (CBS) or cystathionine γ-lyase (CSE) - the enzymes primarily responsible for H₂S synthesis - exhibited increased and normal levels of bioavailable sulfide, respectively. However, an approximately 21-fold increase of urinary homolanthionine in CBS deficiency strongly suggests t

SUBMITTER: Kozich V 

PROVIDER: S-EPMC9615310 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature