Molybdenum Cofactor Deficiency
The molybdenum cofactor deficiency (MOCOD) is a rare autosomal - recessive inherited disease. The hereditary disease leads to toxic sulphite deposits in the brain.
causes
The cause of the lack of molybdenum cofactor (or molybdopterin ) is a deficiency in one of the three enzymes that catalyze the metabolic pathway of MoCo synthesis and that are encoded by three genes , MOCS1 , MOCS2 and GPHN . Depending on the defect in one of these genes, the disease is internationally known as molybdenum cofactor deficiency, complement group A, B or C. The MoCo deficiency means that three other important enzymes, sulfite oxidase , xanthine dehydrogenase and aldehyde oxidase , can no longer perform their functions in energy and sulfur metabolism as well as in biotransformation , which ultimately triggers the characteristic symptoms of the disease.
Symptoms
Children with this disease become conspicuous by having cramps that are difficult to treat one or two days after birth, refusing to eat, and screaming strongly.
diagnosis
Biochemical diagnosis
The biochemical diagnosis is made with a simple strip test . If the sulfite test is positive, the molybdenum cofactor deficiency can be differentiated from the isolated sulfite oxidase deficiency by measuring the uric acid in the plasma, which is significantly reduced in the molybdenum cofactor deficiency.
Molecular genetic study
To carry out a molecular genetic examination after a confirmed biochemical diagnosis, EDTA blood from patients and their parents (or DNA or cell cultures) is required. Due to the large number of genes involved and the complexity and heterogeneity of their mutations, up to 80 sequencing must be carried out. A prenatal diagnosis is e.g. B. possible in the case of a second pregnancy.
therapy
In years of studies, Jochen Reiss and his colleagues from the University of Göttingen discovered the cause of the disease and successfully tested a therapy in animal experiments together with the Cologne biochemists Günter Schwarz and Jose Santamaria-Araujo. Schwarz and Santamaria sent the doctors in Melbourne a drug that had previously only been tested on mice. After only three weeks, the child, known as "Baby Z", left the clinic symptom-free, said Schwarz on Thursday. A second child named "Baby P" is being treated with the active ingredient in Germany.
forecast
The disease is fatal if left untreated.
Individual evidence
- ^ J. Reiss, R. Hahnewald: Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2. In: Human mutation. Volume 32, Number 1, January 2011, pp. 10-18, ISSN 1098-1004 . doi : 10.1002 / humu.21390 . PMID 21031595 . (Review).
- ^ Molybdenum cofactor deficiency. In: Online Mendelian Inheritance in Man . (English).
- ↑ DPA: Deadly ill baby rescued with untested active ingredient. ( Memento of the original from November 8, 2009 in the Internet Archive ) Info: The archive link was automatically inserted and not yet checked. Please check the original and archive link according to the instructions and then remove this notice.
- ↑ a b Info sheet molybdenum. University of Göttingen - Human Genetics
- ↑ Novartis: Rare Diseases [sic. Molybdenum Cofactor Deficiency: A Cure In Sight? ] of March 24, 2005
