Mucolipidosis III (ML III) gamma is a very rare autosomal-recessive disorder characterized by the abnormal trafficking and subcellular localization of lysosomal enzymes due to mutations in the GNPTG gene. The present study consists of a report of a Brazilian compound heterozygote patient with ML III gamma resulting from one mutant paternal allele and one allele that had most likely undergone a ...

I describe a simple set of procedures for the screening of patients' urine to detect oligosaccharide-storage diseases. Urines from patients with mucolipidosis I, mannosidosis, fucosidosis, aspartylglycosaminuria, and type VI glycogen-storage disease can be distinguished by thin-layer chromatography. Patients with beta-galactosidase deficiency can be detected by use of a combination of ion-excha...

A severe form of I-cell disease (mucolipidosis II) can present in the newborn period as multiple fractures. The bone disease in these patients is believed to be due to hyperparathyroidism. We report a case where bone disease was present at birth but the parathyroid hormone levels were initially normal and did not increase until 37 d of age. Supplemention with vitamin D was needed to normalize t...

a supplement to ICD. This combined more detailed subdivision of diagnostic categories of interest to paediatricians with the elimination of diagnoses not commonly encountered in children. It was first available in 1962, known initially as the 'Cardiff classification'. The most recent extensive revision was published in 1979. In 1990, with a new revision of ICD in production (ICD-10), the Intern...

multiple instances of "Gnptab-/-" being published as "Gnptg-/-". The publisher apologizes for this error. Please download the article again to view the corrected version. The originally published, uncorrected article and the republished, corrected article are provided here for reference. Copyright: ß 2014 The PLOS ONE Staff. This is an open-access article distributed under the terms of the Crea...