Emotional and behavioural functioning in children with tyrosinaemia type 1.

Introduction: Tyrosinaemia type I is a rare hereditary metabolic disease caused by deficiency of the enzyme involved in the breakdown of tyrosine. Since the use of nitisinone in addition to diet in 1992, survival rates have increased significantly, but more and more socio-emotional problems have become apparent. The aim of the study was the assessment the relationship between variations in serum tyrosine and phenylalanine levels and measurements of socio-emotional functioning and determination of patients' IQs.

Relationship between Bone Mineral Density and Selected Parameters of Calcium-Phosphate Economy with Dietary Management and Metabolic Control in Polish Pediatric Patients with Classical Homocystinuria-A Preliminary Study.

Background: Classical homocystinuria (HCU) is an inborn defect of methionine metabolism caused by a deficiency of the enzyme cystathionine β-synthase (CBS). The main symptoms of classical homocystinuria are lens subluxation, bone lesions, vascular disease and developmental delay/intellectual disability. The treatment method for HCU is a methionine-poor diet supplemented with amino acid preparations.

Long-term outcome of patients with alpha-mannosidosis - A single center study.

Introduction: Alpha-mannosidosis (AM) is a rare autosomal recessive lysosomal storage disease which the natural history has not been exhaustively described yet. The aim of this study was to present the long-term follow-up of 12 Polish patients with AM, evaluate the clinical, biochemical, and molecular findings and progression of the disease.

Material And Methods: The article presents a long-term (over 30 years) observational, retrospective, single-center study of patients with AM.

Progressive macrophage accumulation in lysosomal acid lipase deficiency.

Lysosomal acid lipase (LAL) deficiency (LAL-D) is a lysosomal lipid storage disorder in which the accumulation of cholesteryl esters and triglycerides predominantly in hepatocytes and cells of the macrophage-monocyte system is observed. The disturbance in the synthesis and trafficking of cholesterol and other lipids (triglycerides as well as phospholipids) as well as the systemic lipoprotein dysregulation, reflects the pathophysiology of LAL-D. The aim of this study was to present the occurrence of macrophage derived structures in LAL-D patient, and to provide an overview on underlying mechanisms, as the literature about the presence of such cluster cells in LAL deficiency is sparse.