A clinical case of a familial form of hereditary metabolic disease from the group of peroxisomal diseases (D-bifunctional protein deficiency) in the neonatal period

Abstract

A clinical case of a familial form of peroxisomal D-bifunctional protein (DBP) deficiency (OMIM 261515) with an unfavorable (fatal) outcome caused by a mutation in type 4 17ß-hydroxysteroid dehydrogenase (HSD17B4) with a nucleotide replacement of chr5:118788316G>A in the homozygous state is presented. (D-bifunctional protein deficiency or 17-beta-hydroxysteroid dehydrogenase IV deficiency). Bifunctional protein deficiency is an autosomal recessive birth defect of peroxisomal fatty acid oxidation. The total incidence of morbidity is one case per 50,000 newborns. Most peroxisomal disorders manifest in the early neonatal period with an extremely severe course and phenotypic features, which facilitates their diagnosis. This is the difference between them and diseases with a milder and prolonged course, which debuted at different age periods, often had no neonatal or infantile symptoms and were accompanied, in some cases, by satisfactory cognitive functions. The purpose of the report was to highlight the clinical manifestations, variants of the course and complexity of the diagnosis of peroxisomal disorders to a wide range of doctors of different specialization: in the field of perinatology, pediatrics, neurology, genetics, endocrinology.