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Literature DB >> 6189976

Juvenile neurogenic muscle atrophy with lysosomal enzyme deficiencies: new disease or variant of mucopolysaccharidosis?

I Goto, H Nakai, T Tabira, N Shinno, Y Tanaka, H Shibasaki, Y Kuroiwa.

Abstract

An 18-year-old boy showed childhood onset of mental retardation, neurogenic muscle atrophy with hyperreflexia, Marfan-like features, multiple epiphyseal dysplasia, increased urinary excretion of dermatan sulfate, and decreased lysosomal enzyme activities in beta-galactosidase, beta-glucuronidase, and N-acetyl-beta-D-glucosaminidase. This case may be a new syndrome, the combination of neurogenic muscle atrophy with lysosomal enzyme deficiencies.

Entities: Chemical Disease Gene Species

Mesh：

Substances：
Muramidase

Year: 1983 PMID： 6189976 DOI： 10.1007/bf00313495

Source DB: PubMed Journal: J Neurol ISSN： 0340-5354 Impact factor: 4.849

26 in total

1. Genetic heterogeneity in multiple lysosomal hydrolase deficiency.

Authors: J H Glaser; W H McAlister; W S Sly
Journal: J Pediatr Date: 1974-08 Impact factor: 4.406

2. A -glucuronidase deficiency mucopolysaccharidosis: studies in cultured fibroblasts.

Authors: C W Hall; M Cantz; E F Neufeld
Journal: Arch Biochem Biophys Date: 1973-03 Impact factor: 4.013

3. Isolation of mononuclear cells and granulocytes from human blood. Isolation of monuclear cells by one centrifugation, and of granulocytes by combining centrifugation and sedimentation at 1 g.

Authors: A Böyum
Journal: Scand J Clin Lab Invest Suppl Date: 1968

Juvenile neurogenic muscle atrophy with lysosomal enzyme deficiencies: new disease or variant of mucopolysaccharidosis?

1. Genetic heterogeneity in multiple lysosomal hydrolase deficiency.

2. A -glucuronidase deficiency mucopolysaccharidosis: studies in cultured fibroblasts.

3. Isolation of mononuclear cells and granulocytes from human blood. Isolation of monuclear cells by one centrifugation, and of granulocytes by combining centrifugation and sedimentation at 1 g.

4. Peptide hydrolases in spinal cord and brain of the rabbit.

5. Adult type mucolipidosis with beta-galactosidase and sialidase deficiency. Histological and biochemical studies.

6. Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts.

7. Characterization of alpha-L-fucosidase from two different families with fucosidosis.

8. Juvenile spinal muscular atrophy: a new hexosaminidase deficiency phenotype.

9. Variation in the phenotypic expression of beta-glucuronidase deficiency.

10. Diagnosis of gaucher's disease and niemann-pick disease with small samples of venous blood.

1. Adrenoleukodystrophy and beta-galactosidase deficiency: patient and carrier.