Journal of Inherited Metabolic Disease

, Volume 30, Issue 1, pp 108–108 | Cite as

A new infantile case of α-N-acetylgalactosaminidase deficiency. Cardiomyopathy as a presenting symptom

Short Report

Summary

α-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. α-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.

Supplementary material

10545_2006_ESM_470.pdf (197 kb)
A new infantile case of α-N-acetylgalactosaminidase deficiency. Cardiomyopathy as a presenting symptom

Copyright information

© SSIEM and Springer 2006

Authors and Affiliations

  1. 1.Institut de Bioquímica Clínica, Hospital ClínicCorporació Sanitària Clínic C/Mejía LequericaBarcelonaSpain

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