title: A new infantile case of alpha-N-acetylgalactosaminidase deficiency. Cardiomyopathy as a presenting symptom.
abstract: alpha-N-Acetylgalactosaminidase deficiency is a lysosomal disorder with clinically very different infantile and adult forms. To date, 12 patients from eight families are known. Neuroaxonal dystrophy or moderate psychomotor retardation, without visceral involvement, have been reported in the infantile form. We describe a new Spanish patient with Schindler disease who presented with hepatomegaly and cardiomyopathy, traits not previously associated with this disease. There was no dysmorphism or neurological involvement in the patient, who died at the age of 8 months. alpha-N-Acetylgalactosaminidase activity was reduced in fibroblasts and liver to 1.6% and 0.57% of controls, respectively. Several lysosomal enzyme activities associated with infantile cardiomyopathy were found in the normal ranges. The patient was a compound heterozygote for the novel mutation p.D217N (c.649G>A) in exon 6 and the already reported mutation p.E325K (c.973G>A) in exon 8. The description of this new case broadens the clinical spectrum of the infantile forms and indicates that Schindler disease should be considered in the diagnosis of metabolic cardiomyopathies.
authors.affiliation: Institut de Bioquímica Clínica, Hospital Clínic, Corporació Sanitària Clínic C/Mejía Lequerica, s/n, Edifici Helios III, 08028, Barcelona, Spain. achabas@clinic.ub.es
authors.forename: A
authors.initials: A
authors.lastname: Chabás
authors.forename: J
authors.initials: J
authors.lastname: Duque
authors.forename: L
authors.initials: L
authors.lastname: Gort
mesh_terms: D009202:Cardiomyopathies / Q000150:complications / Q000175:diagnosis* / Q000201:enzymology*; D003937:Diagnosis, Differential; D005091:Exons; D005347:Fibroblasts / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008099:Liver / Q000378:metabolism; D008247:Lysosomes / Q000378:metabolism; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis*; D009154:Mutation; D048809:alpha-N-Acetylgalactosaminidase / Q000172:deficiency*
chemical_list: D048809:alpha-N-Acetylgalactosaminidase