Molybdenum cofactor deficiency

The molybdenum cofactor deficiency ( MOCOD ) is a rare autosomal recessive inherited disease. This genetic disease results in toxic deposits of sulfite in the brain.

Causes

The reason for the lack of molybdenum cofactor ( molybdopterin or ) is a deficiency of one of the three enzymes that catalyze the metabolic pathway of MoCo synthesis and which are encoded by three genes, MOCS1, MOCS2 and GPHN. Depending on the fault in any of these genes, the disease is referred internationally as molybdenum cofactor deficiency Komplementgruppe A, B or C. The MoCo deficiency leads to three other important enzymes sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase to their functions in the energy and sulfur metabolism, as well as in the biotransformation can no longer practice what ultimately triggers the symptoms characteristic of the disease.

Symptoms

Children with this disease present in which they after birth are difficult to treat cramps a day or two, refuse food, strong cry ..

Diagnosis

Biochemical diagnosis

The biochemical diagnosis is made with a simple strip test. With sulfite test positive definition of the molybdenum cofactor deficiencies of the isolated sulphite oxidase deficiency is achieved by measuring the uric acid in the plasma, which is clearly decreased in the molybdenum cofactor deficiencies.

Molecular genetic analysis

To perform a molecular genetic examination after secure biochemical diagnosis of EDTA blood from patients and their parents ( or DNA or cell cultures ) is required. Because of the many genes involved and to the complexity and heterogeneity of their mutations, up to 80 sequencing reactions must be carried out. Prenatal diagnosis is possible, for example, in the case of a second pregnancy.

Therapy

In years of study Jochen Reiss and his colleagues at the University of Göttingen have discovered the cause of the disease and successfully tested together with the Cologne biochemists Günter Schwarz and Jose Santamaria - Araujo therapy in animal experiments. Black and Santa Maria sent the doctors in Melbourne a previously tested only on mice medication. After only three weeks, became known under the name " Baby Z " child had left the hospital symptom-free, Black said on Thursday. A second child named " Baby P" was being treated in Germany with the drug.

Forecast

The disease is untreated, fatal.