Two forms of cblC are recognized, termed early and late onset, based on the age of symptom onset.

The most common form is early onset, characterized by severe clinical manifestations such as acidotic coma, hemolytic-uremic syndrome, hypotonia, failure to thrive, acute neurological deterioration, cognitive impairment, lethargy, epilepsy, microcephaly, and macular degeneration.

Late onset, conventionally defined as late from the age of one year onwards, can be acute-intermittent or chronic-progressive with psychiatric symptoms (dementia and psychosis) or with ataxia and subacute spinal cord degeneration, or even with hemolytic-uremic syndrome.

To date, the therapeutic strategy focuses primarily on the parenteral administration of high-dose vitamin B12, in the form of hydroxocobalamin, which is a life-saving drug for patients with cblC. Along with B12, other medications are administered, such as betaine anhydrous, L-carnitine, and folinic acid, which help optimize the metabolic cycle and better control homocysteine ​​and methionine levels.

The association is in direct contact with major clinical institutes in Italy, Europe, and America, and is also part of the E-Hod team (European Network and Registry for Homocystinurias and Methylation Defects), which brings together numerous European metabolic centers and has led the revision of guidelines on remethylation defects, in which our association, the first example in the world, was directly involved in drafting.

Additionally, the association is part of the Telethon Network Associations, is federated with Uniamo, adheres to the AMR network, and collaborates with numerous other foreign associations such as Acimet, OAA, HCU America, HCU Australia…

In the field of crisis response, it aims to ensure, as much as possible, the continuation of therapy for CBLC carriers, addressing moments of shortage by interfacing directly with industries and institutions, to overcome crises without patients risking therapeutic continuity, for example, due to drug shortages.

RESEARCH

To date, there is no definitive cure for CBLC, therefore, in the field of research, the Association aims to explore every possible avenue that could lead to a different, more effective, more complete, and less invasive cure for CBLC carriers. It maintains contacts with numerous Italian and foreign research centers
, supports both directly and in collaboration with other entities, such as Telethon, scientific projects aimed at studying possible therapeutic avenues, for example enzymatic or genetic, to find a definitive therapy for CBLC. It also supports projects aimed at better understanding the underlying mechanisms of the disease to improve current therapies, and possibly find methods to cure any acquired damage where possible, such as maculopathy, for example, once the mechanism underlying the damage itself is understood.