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Hereditary branching enzyme dysfunction in adult polyglucosan body disease: a possible metabolic cause in two patients.
Ann Neurol. 1991 Nov; 30(5):655-62.AN

Abstract

We describe 2 unrelated patients with adult polyglucosan body disease (APBD) diagnosed by sural nerve biopsy. Both patients were offspring of consanguineous marriages. They presented clinically with late onset pyramidal tetraparesis, micturition difficulties, peripheral neuropathy, and mild cognitive impairment. Magnetic resonance imaging of the brain revealed extensive white matter abnormalities in both. In search of a possible metabolic defect, we evaluated glycogen metabolism in these patients and their clinically unaffected children. Branching enzyme activity in the patients' polymorphonuclear leukocytes was about 15% of control values, whereas their children displayed values of 50 to 60%, suggesting a possible autosomal recessive mode of transmission. This is the first report of an inherited metabolic defect in patients with adult polyglucosan body disease. We suggest that branching enzyme dysfunction may be implicated in the pathogenesis of some patients with adult polyglucosan body disease.

Authors+Show Affiliations

Department of Neurology, Hadassah University Hospital, Hebrew University-Hadassah Medical School, Jerusalem, Israel.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Comparative Study
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

1763891

Citation

Lossos, A, et al. "Hereditary Branching Enzyme Dysfunction in Adult Polyglucosan Body Disease: a Possible Metabolic Cause in Two Patients." Annals of Neurology, vol. 30, no. 5, 1991, pp. 655-62.
Lossos A, Barash V, Soffer D, et al. Hereditary branching enzyme dysfunction in adult polyglucosan body disease: a possible metabolic cause in two patients. Ann Neurol. 1991;30(5):655-62.
Lossos, A., Barash, V., Soffer, D., Argov, Z., Gomori, M., Ben-Nariah, Z., Abramsky, O., & Steiner, I. (1991). Hereditary branching enzyme dysfunction in adult polyglucosan body disease: a possible metabolic cause in two patients. Annals of Neurology, 30(5), 655-62.
Lossos A, et al. Hereditary Branching Enzyme Dysfunction in Adult Polyglucosan Body Disease: a Possible Metabolic Cause in Two Patients. Ann Neurol. 1991;30(5):655-62. PubMed PMID: 1763891.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Hereditary branching enzyme dysfunction in adult polyglucosan body disease: a possible metabolic cause in two patients. AU - Lossos,A, AU - Barash,V, AU - Soffer,D, AU - Argov,Z, AU - Gomori,M, AU - Ben-Nariah,Z, AU - Abramsky,O, AU - Steiner,I, PY - 1991/11/1/pubmed PY - 1991/11/1/medline PY - 1991/11/1/entrez SP - 655 EP - 62 JF - Annals of neurology JO - Ann Neurol VL - 30 IS - 5 N2 - We describe 2 unrelated patients with adult polyglucosan body disease (APBD) diagnosed by sural nerve biopsy. Both patients were offspring of consanguineous marriages. They presented clinically with late onset pyramidal tetraparesis, micturition difficulties, peripheral neuropathy, and mild cognitive impairment. Magnetic resonance imaging of the brain revealed extensive white matter abnormalities in both. In search of a possible metabolic defect, we evaluated glycogen metabolism in these patients and their clinically unaffected children. Branching enzyme activity in the patients' polymorphonuclear leukocytes was about 15% of control values, whereas their children displayed values of 50 to 60%, suggesting a possible autosomal recessive mode of transmission. This is the first report of an inherited metabolic defect in patients with adult polyglucosan body disease. We suggest that branching enzyme dysfunction may be implicated in the pathogenesis of some patients with adult polyglucosan body disease. SN - 0364-5134 UR - https://www.unboundmedicine.com/medline/citation/1763891/Hereditary_branching_enzyme_dysfunction_in_adult_polyglucosan_body_disease:_a_possible_metabolic_cause_in_two_patients_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0364-5134&date=1991&volume=30&issue=5&spage=655 DB - PRIME DP - Unbound Medicine ER -