"Salla disease": a new lysosomal storage disorder
P. Aula, S. Autio, K. O. Raivio, J. Rapola, C. J. Thoden, S. L. Koskela and I. Yamashina
Severe mental retardation, coarse facial features, clumsiness, and speech
failure were common findings in three brothers and one female third-cousin
of a family from northern Finland. All the patients had vacuolated
lymphocytes in peripheral blood smears, and electron microscopy of fresh
skin biopsy specimens showed abundant cytoplasmic inclusions in various
types of cells of the skin. Eight lysosomal hydrolases were assayed in
peripheral blood lymphocytes and cultured skin fibroblasts, but no enzyme
deficiency was detected. Urinary excretion of mucopolysaccharides, amino
acids, glycoasparagines, and oligosaccharides was normal. Clinical
findings, course of the disease, and the presence of cytoplasmic
inclusions, indicating lysosomal storage phenomenon, suggest that the
patients suffer from a genetic lysosomal storage disorder not described
earlier. The eponym "Salla disease" was introduced, referring to the
geographically restricted area where the family resides.
Blood film examination for vacuolated lymphocytes in the diagnosis of metabolic disorders; retrospective experience of more than 2500 cases from a single centre
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J. Clin. Pathol. 2005;58:1305-1310.
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Varied Mechanisms Underlie the Free Sialic Acid Storage Disorders
Wreden et al.
J. Biol. Chem. 2005;280:1408-1416.
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Proton Nuclear Magnetic Resonance Spectroscopic Detection of Sialic Acid Storage Disease
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Clin. Chem. 2002;48:357-359.
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Multiple Neuroendocrine Disorder in Salla Disease
Grosso et al.
J Child Neurol 2001;16:775-777.
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Central and peripheral nervous system dysfunction in the clinical variation of Salla disease
Varho et al.
Neurology 2000;55:99-104.
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Accumulation of Sialic Acid in Endocytic Compartments Interferes with the Formation of Mature Lysosomes. IMPAIRED PROTEOLYTIC PROCESSING OF CATHEPSIN B IN FIBROBLASTS OF PATIENTS WITH LYSOSOMAL SIALIC ACID STORAGE DISEASE
Schmid et al.
J. Biol. Chem. 1999;274:19063-19071.
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A new metabolite contributing to N-acetyl signal in 1H MRS of the brain in Salla disease
Varho et al.
Neurology 1999;52:1668-1668.
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Brain Involvement in Salla Disease
Sonninen et al.
Am. J. Neuroradiol. 1999;20:433-443.
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Elejalde Syndrome--A Melanolysosomal Neurocutaneous Syndrome: Clinical and Morphological Findings in 7 Patients
Duran-McKinster et al.
Arch Dermatol 1999;135:182-186.
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Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease
Renlund et al.
Science 1986;232:759-762.
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