β‐Galactosidase–neuraminidase deficiency (galactosialidosis): Clinical, pathological, and enzymatic studies in a postmortem case

Abstract

Three male siblings in a Japanese family were affected with beta-galactosidase-neuraminidase deficiency (galactosialidosis). One patient died at 45 years of age, and postmortem liver and brain tissues were studied enzymatically. The residual activity of neuraminidase was relatively high in these tissues. Neuraminidase activity did not change in the tissues after repeated freezing and thawing of the homogenates, whereas this enzyme in control tissues lost 30 to 60% of its activity. There was a profound deficiency of beta-galactosidase in the tissues of the patient. Michaelis constant, pH profiles, and cryostability were identical for the patient and control patients. Cathepsin B was moderately increased in activity in the patient's tissues.

Lysosomal Storage Disorders in the Newborn

“…For example, Gaucher disease, which results from the deficiency of the enzyme glucocerebrosidase, is the most common genetic disorder in Ashkenazi Jews, with a frequency of ~1 in 855 live births 7. An increased incidence of galactosialidosis is found among individuals of Japanese ancestry 8. Pompe disease is reported to have an increased frequency in subjects of African or Chinese ancestry 9.…”

A case of adult type galactosialidosis with involvement of peripheral nerves

“…It is characterized by clinical symptoms of gargoylelike facies, cherry-red spots, myoclonus, and cerebellar ataxia [2,3,8,12]. Peripheral neuropathy is not usually observed.…”

“…Previous authors have reported a slight decrease in vibration sense [7,8,10,13] or superficial sensation [7] in a number of patients. However, there is no report of decreased amplitudes of sensory nerve action potential as in the present patient.…”

“…However, there is no report of decreased amplitudes of sensory nerve action potential as in the present patient. Regarding motor system, a few patients showed slight to mild lower motor disturbances in clinical [4,5,8] and neurophysiological examinations including nerve conduction studies or needle electromyography [4,5].…”

Combined sialidase (neuraminidase) and β‐galactosidase deficiency. Clinical, morphological and enzymological observations in a patient

“…Patients with a combined deficiency of sialidase and a-galactosidase may present with symptoms and signs similar to type 2 sialidosis but in the majority of cases the onset is later, the progression much slower, and a long survival may be observed (Sakai et al 1982, Sakuraba et al 1983). However, a correct diagnosis discriminating between type 2 sialidosis and galactosialidosis is hard to make on clinical grounds exclusively, and additional enzymological evidence is required.…”