On December 15–17, 2022, the Winter Specialized Immunology School, “Inborn Errors of Immunity,” was held in Uzhgorod Zakarpattia Region with support Danylo Halytsky Lviv National Medical University, International Interdisciplinary Association Professionals, All-Ukrainian Pediatric NGO, and European University. This school aims to analyze new approaches early diagnosis primary/congenital disorde...

Vitamin B 6 is an important vitamin for normal brain function. The metabolism of dietary vitamin B 6 to its active cofactor pyridoxal 5´-phosphate is described. The mechanism of action of pyridoxal 5´-phosphate is described, as are some important functions in the brain. The clinical features and biochemistry of three inborn errors of metabolism affecting brain pyridoxal 5´-phosphate concentrati...

Inborn errors of metabolism are individually rare but are an important cause of mortality and morbidity in infants and children. Dietary therapy is the mainstay of treatment in phenylketonuria, maple syrup urine disease, homocystinuria, galactosemia and glycogen storage disease (Type I/III). Some disorders like urea cycle disorders and organic acidurias require dietary modification in addition ...

regulation of these genes, then, are thought to be the common mechanism in tumorigenesis. Whereas physicians of antiquity saw cancer as a single disease which manifested itself in various organs, in more recent times cancer had been thought of as hundreds of separate diseases; with the current understanding of oncogenes, there is again the view of a strong common thread. In September 1982, many...

An inborn error of metabolism is a metabolic defect caused by an abnormality in one or more genes. An abnormality present at birth is not necessarily inborn: the foetus may acquire congenital disease such as syphilis or deformity through intrauterine injury. Of more direct nutritional interest are the diseases of the newborn that occur through administration of substances to the pregnant woman ...

Salt-induced Hypertension in Rats The history of NaCl-induced hypertension in rats is given iby Meneely and 'Dahl (1961). In our laboratory iwe now have two strains of white Sprague-Dawley rats, both with fairly predictable prognosis relative to the development of hypertension, (Dahl, Heine and Tassinari, 1962). They are called R (for Resistant) and S (for Sensitive), and if chronically fed the...

Although inborn errors of metabolism are rarely found to be the cause of epilepsy, seizures are a frequent symptom in metabolic disorders. In a few of these, epilepsy responds to specific treatment by diet or supplementation. However, in most, no such treatment is available and conventional antiepileptic drugs must be used, often with no great success. However, because uncontrolled epilepsy wil...