In Ukraine, opportunities have emerged for high-quality diagnosis and treatment of patients with rare inherited metabolic disorders – methylmalonic and propionic acidemias. The corresponding standard of medical care and evidence-based clinical guideline were approved by MoH order No. 152 of 30.01.2024. Specialists of the Center are among the developers.
The documents have been developed on the basis of current guidelines (Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision. 2021) and adapted to the healthcare system as an example of best practice regarding the effectiveness and safety of medical interventions, pharmacotherapy, and organizational principles of providing medical care.
The main emphasis is on early detection of diseases within the Expanded Newborn Screening Program, improved treatment and patient management strategies, and diet therapy.
Timely diagnosis makes it possible to ensure a prompt start of pathogenetic treatment, which is important for the prevention of complications of the disease.
The standard contains a list of signs and symptoms and a detailed biochemical picture that make it possible to diagnose the disease at an early stage, an algorithm for providing emergency care to children, monitoring of complications, etc.
Medical technological documents will be important in the work of geneticists, neonatologists, pediatricians and narrow-profile specialists involved in treatment (neurologists, cardiologists, gastroenterologists, immunologists, etc.).
You can find out more on the Center's website at the link https://www.dec.gov.ua/…/diagnostyka-ta-likuvannya…/
Isolated methylmalonic acidemia (MMA) and propionic acidemia (PA) are rare inherited metabolic diseases. In the early neonatal stage they are characterized by a lack of weight gain in newborns, hypoglycemia, hypotonia, and neurological disorders. Biochemical signs are metabolic acidosis, ketosis, hyperlactatemia, and hyperammonemia. Patients with late onset of the disease suffer from physical and intellectual developmental disorders, poor weight gain, and a number of neurological, cardiac, and renal disorders. Metabolic decompensation and cardiomyopathy are the most common cause of death in patients.
