UPDATED CLINICAL PROTOCOLS OF INHERITED FATTY ACID OXIDATION DISORDERS IN NEWBORNS: CONSOLIDATED DATA FROM THE INTERNATIONAL CLINICAL GUIDELINES

Fatty acid oxidation disorders (FAODs) are a group of inherited metabolic diseases (IMDs) caused by impairments in mitochondrial β-oxidation fatty acids (FA) due to defects genes encoding enzymes, transporters, membrane channels, and receptors that mediate this process. A common characteristic IMDs is an energy deficit associated with suppression metabolism mitochondria decrease the production ketone bodies substrate tricarboxylic cycle – acetyl-coenzyme A. Since deficiency pathogenetic factor entire FAODs, manifestation these similar, only certain nosologies have specific differences clinical picture, accordingly, require similar treatment. Initial manifestations FAODs neonatal early childhood most often include cardiomyopathy, liver dysfunction, hypoketotic hypoglycemia. For newborns FAOD, main danger rapidly progressing crisis states decompensation severe, fatal consequences. In adolescence, addition above severe symptoms, episodes rhabdomyolysis may also occur.Since long intervals between meals one factors provoking patients key tool for their prevention avoidance prolonged fasting. cases development states, symptomatic treatment used introduction carnitine according indications. The special role its involvement transport long-chain through membrane. Treatment enzymes whose substrates involves use low-fat diet medium-chain triglycerides docosahexaenoic diet. Success treating as such particularly, directly related detection disease beginning since destructive effect toxic metabolites on internal organs brain increases duration exposure, leading progressive damage delay physical mental development.An effective extended screening program, implementation which, WHO, has become greatest achievement health care systems developed countries world reducing levels child mortality disability first 10 years 21st century. 2019, program newborn was started Ukraine at initiative State Institution “Institute Pediatrics, Obstetrics Gynecology named after Academician O.M. Lukyanova National Academy Medical Sciences Ukraine”, “Association Neonatologists Ukraine” “CDC Pharmbiotest” (Baby Screen, https://baby-screen.com.ua).One reasons limit general diagnostic procedure doctors' lack awareness attention regarding IMDs, causes serious diseases, search algorithms, approaches treatment, patient follow-up. There urgent need concise medical information includes: brief description individual genetic defect; characteristics biochemical list marker substances accumulate blood urine IMDs; procedures primary clarifying laboratory studies; disease; strategy prognosis. At discretion Baby Screen team, provided form protocols.In publication, we present eight Clinical Protocols, which were prepared team specialists pediatrics, genetics, analytics, who trained centers EU regularly participate training scientific-practical seminars topic. sources given protocols international national guidelines screening, websites organizations specializing diagnosis well-known monographs periodicals.