A rare metabolic disease, alpha-mannosidosis, is described in two siblings. Psychomotoric deficiency, deafness, coarse face and radiological changes in the skeletal system indicated an inherited lysosomal storage disease.
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Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases.
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September 2019
Centre de Génétique et Centre de Référence Maladies Rares 'Anomalies du Développement' de l'Interrégion Est, Hôpital d'Enfants, CHU, Dijon, France.
Article Synopsis
- * Diagnosis typically involves measuring enzyme activity and detecting mannose-rich oligosaccharides, with genetic confirmation through MAN2B1 mutations; enzyme replacement therapy has been available since 2018.
- * A study of seven individuals with syndromic hearing loss and learning disabilities highlighted the challenges of diagnosing AM, underscoring the potential of exome sequencing to aid early identification in subtle cases, improving treatment and management.
Cerebral Magnetic Resonance Spectroscopy Demonstrates Long-Term Effect of Bone Marrow Transplantation in α-Mannosidosis.
JIMD Rep
August 2013
, 9, Blegdamsvej, Section X3023, DK-2100, Copenhagen Ø, Denmark,
α-Mannosidosis, OMIM #248500, is an autosomal recessive lysosomal storage disease caused by acidic α-mannosidase deficiency. Treatment options include bone marrow transplantation (BMT) and, possibly in the future, enzyme replacement therapy. Brain magnetic resonance spectroscopy (MRS) enables non-invasive monitoring of cerebral treatment effect.
View Article and Find Full Text PDFAlpha-mannosidosis: a report of 2 siblings and review of the literature.
J Child Neurol
January 2014
1Department of Paediatric Neurology, Nelson R. Mandela School of Medicine, University of Kwa-Zulu Natal, Durban, South Africa.
Alpha-mannosidosis is a rare lysosomal storage disorder with a heterogeneous clinical presentation. We describe a set of siblings with alpha-mannosidosis. The older child presented with a severe phenotype with multisystem involvement and had progressive deterioration in her motor and cognitive functioning.
View Article and Find Full Text PDFSevere periodontal destruction in alpha-mannosidosis: a case series.
Pediatr Dent
May 2013
Department of Restorative Dentistry, Croydon University Hospital, London, UK.
Alpha-mannosidosis is a rare genetic lysosomal storage disorder that is inherited in an autosomal recessive pattern. Severe periodontal breakdown in alpha-mannosidosis patients has not previously been reported in the literature. The purposes of this paper are to: present the cases of 2 siblings diagnosed with alpha-mannosidosis, each of whom had varying severity of periodontal destruction; and provide an overview of alpha-mannosidosis, the possible reasons for the periodontal destruction, and the periodontal management in the 2 affected siblings.
View Article and Find Full Text PDFSuccessful unrelated bone marrow transplantation in two siblings with alpha-mannosidosis.
Pediatr Transplant
November 2012
Department of Pediatric Hematology-Oncology, School of Medicine, Akdeniz University, Antalya, Turkey.
Alpha-mannosidosis is a rare lysosomal storage disorder with an autosomal recessive inheritance. Deficient alpha-mannosidase activity leads to lysosomal accumulation of mannose-rich oligosaccharides. The disease characterized by mental retardation, skeletal changes, hearing impairment, and recurrent infections.
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