Abstract:
Introduction:
Inborn errors of metabolism (IEM) make up a large group of disorders
caused by an inherited defect of proteins that have enzymatic, carrier,
receptor or structural roles. Purpose: The objective of the study was to
appreciate the importance of plasma amino acids in the diagnosis of IEM. Material and methods:
Plasma amino acids quantification was performed by high
performance liquid chromatography (HLPC), Na-type,
using Shimadzu LC-20 with post column derivatization
with OPA and fluorescence detector, in 14 children with
clinical signs specific for amino acid disorders. 1. High phenilalanine (Phe) level have been identified in a 5
days old girl who had a familial history for Phenylketonuria
(PKU). Her PKU screening results were abnormal being
suggestive for disorders of Phe metabolism. The amino acid
profile confirmed the suspicions. 2. High glycine (Gly) level have been seen in a girl of 2
months old, whose main clinical conditions were seizures
from birth, precomatous state and respiratory arrest. Based
on clinical features and metabolic results, Nonketotic
hyperglycinemia (NKH) was suspected.
3. High level of alanine (Ala) has been observe in two patients.
First patient (A) manifested frequent metabolic crises with
severe lactic acidosis. The second patient (B) showed severe
lactic acidosis, metabolic decompensation after virosis. The
obtained data (high Ala level) suggest the mitochondrial
involvement. Conclusions: Quantitative analysis of amino acids is an essential step in the work-up for metabolic
disorders. The early and precise diagnosis of IEM is essential for the long-term health of affected subjects.
