Biomaterial Database

Adult type beta-galactosidase and neuraminidase deficiency in three siblings. 1984

A Satoh, and M Tsujihata, and T Yoshimtra, and M Mori, and S Nagataki

In recent years, there have been described a number of patients with beta-galactosidase and neuraminidase deficiency of juvenile onset. The clinical features in these patients are myoclonus, cherry-red spots, insidious visual loss, corneal clouding, gargoyle like appearance and ataxia. The condition appears to be transmitted as an autosomal recessive trait. Pathologically it has been characterized that there are vacuolation of lymphocytes, and inclusion bodies such as concentric membranous bodies in the ganglion cells of the rectum. Here we report a patient with beta-galactosidase and neuraminidase deficiency of juvenile onset in whom unusual "fingerprint" profiles were obtained in the submucosal ganglion cells in the rectum and will discuss the clinical significance of the inclusion bodies.

UI	MeSH Term	Description	Entries
D007787	Lactose Intolerance	The condition resulting from the absence or deficiency of LACTASE in the MUCOSA cells of the GASTROINTESTINAL TRACT, and the inability to break down LACTOSE in milk for ABSORPTION. Bacterial fermentation of the unabsorbed lactose leads to symptoms that range from a mild indigestion (DYSPEPSIA) to severe DIARRHEA. Lactose intolerance may be an inborn error or acquired.	Lactose Malabsorption,Alactasia,Dairy Product Intolerance,Hypolactasia,Milk Sugar Intolerance,Intolerance, Lactose,Malabsorption, Lactose
D008214	Lymphocytes	White blood cells formed in the body's lymphoid tissue. The nucleus is round or ovoid with coarse, irregularly clumped chromatin while the cytoplasm is typically pale blue with azurophilic (if any) granules. Most lymphocytes can be classified as either T or B (with subpopulations of each), or NATURAL KILLER CELLS.	Lymphoid Cells,Cell, Lymphoid,Cells, Lymphoid,Lymphocyte,Lymphoid Cell
D008297	Male		Males
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D009207	Myoclonus	Involuntary shock-like contractions, irregular in rhythm and amplitude, followed by relaxation, of a muscle or a group of muscles. This condition may be a feature of some CENTRAL NERVOUS SYSTEM DISEASES; (e.g., EPILEPSY, MYOCLONIC). Nocturnal myoclonus is the principal feature of the NOCTURNAL MYOCLONUS SYNDROME. (From Adams et al., Principles of Neurology, 6th ed, pp102-3).	Myoclonus, Action,Myoclonus, Nocturnal,Myoclonus, Palatal,Polymyoclonus,Myoclonic Jerk,Myoclonic Jerking,Myoclonus Simplex,Myoclonus, Eyelid,Myoclonus, Intention,Myoclonus, Lower Extremity,Myoclonus, Oculopalatal,Myoclonus, Segmental,Myoclonus, Sleep,Myoclonus, Upper Extremity,Action Myoclonus,Extremity Myoclonus, Lower,Extremity Myoclonus, Upper,Eyelid Myoclonus,Intention Myoclonus,Jerk, Myoclonic,Jerking, Myoclonic,Jerks, Myoclonic,Lower Extremity Myoclonus,Myoclonic Jerks,Nocturnal Myoclonus,Oculopalatal Myoclonus,Palatal Myoclonus,Segmental Myoclonus,Simplex, Myoclonus,Sleep Myoclonus,Upper Extremity Myoclonus
D009439	Neuraminidase	An enzyme that catalyzes the hydrolysis of alpha-2,3, alpha-2,6-, and alpha-2,8-glycosidic linkages (at a decreasing rate, respectively) of terminal sialic residues in oligosaccharides, glycoproteins, glycolipids, colominic acid, and synthetic substrate. (From Enzyme Nomenclature, 1992)	Sialidase,Exo-alpha-Sialidase,N-Acylneuraminate Glycohydrolases,Oligosaccharide Sialidase,Exo alpha Sialidase,Glycohydrolases, N-Acylneuraminate,N Acylneuraminate Glycohydrolases,Sialidase, Oligosaccharide
D012007	Rectum	The distal segment of the LARGE INTESTINE, between the SIGMOID COLON and the ANAL CANAL.	Rectums
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man