This metabolic disease occurs in children whose genome has a mutation in the gene for the methyladenosyltransferase enzyme. The resulting deficiency in the enzyme leads to an accumulation of the ...

A third enzyme, AEB4104, degrades homocystine, which accumulates in people with the rare genetic disease classical homocystinuria as a result of a deficiency of the enzyme cystathionine β-synthase.

In India, 32 patients, diagnosed with this condition by the Centres of Excellence (CoEs), have registered themselves with the ...

Even today, sickle cell disease is more prevalent in agricultural societies than among people who hunt and gather their food. G6PD deficiency is a sex-linked enzyme deficiency that affects 400 ...

A Denali Therapeutics drug for the rare enzyme deficiency Hunter syndrome is still ... the cognitive and behavioral symptoms of the disease. Denali’s solution is to get IDS enzymes into the ...

Researchers identified genetic variants affecting sucrase, a key digestive enzyme, linked to IBS risk and symptom severity.

Title: Impact of the Enzyme Replacement Therapy, INZ-701, in Children with ENPP1 Deficiency: Experience from an Expanded Access Program Presentation Number: 10 – Poster Session Date: Saturday, ...