Pediatr. praxi. 2011;12(5):314-319

Clinical manifestations of inherited metabolic disorders in childhood

doc.MUDr.Tomáš Honzík, Ph.D.

Klinika dětského a dorostového lékařství a Ústav dědičných metabolických poruch, 1. LF UK a VFN v Praze

Inherited metabolic disorders represent a heterogeneous group of diseases, whose common feature is the presence of biochemical or

enzymatic abnormalities detectable only by a special laboratory tests. Clinical findings are dependent mainly on exact molecular defect

and on level of residual enzymatic activity. In majority of cases the first clinical signs of the disease developed during early childhood,

however, some metabolic diseases have their onset later or even during adulthood. The early diagnosis is essential for treatment commencement

and for genetic counseling or prenatal diagnostic in affected families. Expanded newborn screening speeds up the diagnostic

process in some metabolic diseases, but the role of the primary physicians is crucial and irreplaceable in the selective screening

of symptomatic patients at risk of inherited metabolic disorders.

Keywords: inherited metabolic disorders, newborn screening, multi-organ dysfunction, heredity

Published: November 1, 2011  Show citation