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Pompe disease (PD), a glycogen storage inborn error of metabolism (type II), is caused by the defi ciency of acid α-glucosidase (GAA); it can manifest itself in two forms: infantile onset (IPD) and late-onset (LOPD). Clinical presentation of this disorder is variable, depending on age at onset, level of organ involvement, progression rate, and genotype. PD is classifi ed as a glycogenosis; and, since individuals with this disorder excrete oligosaccharides in the urine, can be considered to be an oligosaccharidosis as well. Urinary tetraglucoside (Glc4), considered to be a biomarker of the disease, could be an auxiliary tool in screening for PD in suspected cases. Urine samples from 24 known patients with IPD (n = 15) and LOPD (n = 9), and normal controls (n = 215) were submitted to thin layer chromatography (TLC) analysis and high performance liquid chromatography (HPLC) quantifi Identifi cation and Quantifi cation of the Biomarker Glucose Tetrasaccharide Glc4 by Thin Layer Chromatography and High Performance Liquid Chromatography in Pompe Disease Patients

journal of neuromuscular diseases

Identification and Quantification of the Biomarker Glucose Tetrasaccharide Glc4 by Thin Layer Chromatography and High Performance Liquid Chromatography in Pompe Disease Patients