NDLI: Constitutive achlorhydria in mucolipidosis type IV.

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Constitutive achlorhydria in mucolipidosis type IV.

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Constitutive achlorhydria in mucolipidosis type IV.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Sutliff, V. E. Schiffmann, R. Barton, N. W. Tsokos, M. Dwyer, N. K. Lubensky, I. A. Blanchette-mackie, E. J. Latimer, J. S. Goldin, E. Frei, K. P. Brady, R. O.
Description	Author Affiliation: Schiffmann R ( Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA. raffis@helix.nih.gov);
Abstract	Mucolipidosis type IV is an autosomal recessive lysosomal storage disease of unknown etiology that causes severe neurological and ophthalmological abnormalities. In an attempt to obtain insight into the nature of the metabolic abnormality in this disorder, we prospectively evaluated 15 consecutive patients, aged 2 to 23 years, over a period of 22 months. The finding of iron deficiency in some of the patients led us to the discovery that all patients but one had markedly elevated blood gastrin levels. None had vitamin B12 deficiency. Gastroscopy in three patients showed normal gross appearance of the mucosa in two patients, 4 and 7 years old, and mucosal atrophy in a 22-year-old. Parietal cells were present in normal numbers and contained large cytoplasmic inclusions that were confirmed immunohistochemically to be lysosomal in nature. Other gastric epithelial cells appeared normal. Parietal cells contained very few tubulovesicular membranes, suggesting cellular activation, whereas apical canaliculi appeared relatively nonactivated. Both subunits of the parietal cell H+/K+-ATPase were present, and both partially colocalized with f-actin at the apical membrane. We conclude that patients with mucolipidosis type IV are constitutively achlorhydric and have partially activated parietal cells. We hypothesize that the defective protein in this disease is closely associated with the final stages of parietal cell activation and is critical for a specific type of cellular vacuolar trafficking between the cytoplasm and the apical membrane domain.
ISSN	00278424
e-ISSN	10916490
Journal	Proceedings of the National Academy of Sciences of the United States of America
Issue Number	3
Volume Number	95
Language	English
Publisher	National Academy of Sciences
Publisher Date	1998-03-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Achlorhydria Complications Mucolipidoses Pathology Actins Metabolism Adolescent Child, Preschool Gastric Acid Chemistry Gastroscopy H(+)-K(+)-Exchanging ATPase Microscopy, Confocal Physiopathology Parietal Cells, Gastric Research Support, Non-U.S. Gov't Multidisciplinary
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

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