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A 30-minute educational webinar with Dr Christina Lampe (Rare Disease Center, Germany) walking through the alpha-mannosidosis patient's journey — from the earliest signs to lifelong, multidisciplinary care — through one patient followed from infancy to adulthood. For paediatricians and metabolic teams.
Alpha-mannosidosis is a rare, genetic, progressive, multisystemic lysosomal storage disease that overlaps with the mucopolysaccharidoses (MPS) — indeed it was once called a 'Hurler-like syndrome' — but differs in its ataxia, immunodeficiency and psychiatric episodes. Dr Christina Lampe follows one of her own patients from infancy to adulthood: in early childhood, hernias, macrocephaly, developmental (especially speech) delay, recurrent infections and dysostosis multiplex suggested MPS, but the urinary glycosaminoglycans were normal — and, as she stresses, when GAGs are normal, other lysosomal storage disorders such as alpha-mannosidosis should be considered, confirmed by urinary oligosaccharides, the alpha-mannosidase enzyme assay and MAN2B1 genetic testing. The case charts adolescence and adulthood — progressive musculoskeletal problems, ataxia and cognitive decline — and shows that enzyme replacement therapy with velmanase alfa, started in adulthood, improved stamina, balance, pulmonary function and quality of life. Dr Lampe underlines the need for comprehensive, coordinated, individualised care, with regular ENT, ophthalmological, orthopaedic, neurological and respiratory review and a dedicated coordinator, and presents survey data showing significant gaps in access to therapies, education and psychological support. She advocates early diagnosis, standardised monitoring, and participation in disease registries such as SPARKLE, and closes by urging paediatricians to consider alpha-mannosidosis in any child with developmental delay, hearing loss and recurrent infections, and to connect patients with support networks.
After viewing this webinar, participants will be able to:
Because it shares features such as coarse facial features, organomegaly, dysostosis multiplex, developmental delay and recurrent infections — indeed it was historically called a 'Hurler-like syndrome'. The key distinction is that urinary glycosaminoglycans are normal in alpha-mannosidosis, and it also has ataxia, immunodeficiency and psychiatric episodes that are not typical of MPS.
By urinary oligosaccharide screening (showing mannose-rich oligosaccharides), the alpha-mannosidase enzyme activity assay in blood or on a dried blood spot, and confirmatory MAN2B1 genetic testing. When a child with an MPS-like picture has normal urinary glycosaminoglycans, these tests should be used to look for alpha-mannosidosis and other lysosomal storage disorders.
Comprehensive, coordinated, individualised care — regular ENT, ophthalmological, orthopaedic, neurological and respiratory review, plus attention to growth, hearing, cognition, mobility and psychosocial well-being — ideally led by a coordinator who knows the patient. Enzyme replacement therapy is available in some countries, HSCT is an option in some cases, and symptomatic therapies and social, psychological and educational support are essential.
In clinical trials, velmanase alfa reduced serum oligosaccharides and improved measures such as the three-minute stair-climb and six-minute walk tests, serum IgG, forced vital capacity, quality of life and motor skills, with pain reduction across groups. In the case presented, treatment started in adulthood improved stamina, balance, pulmonary function and quality of life — showing benefit even when begun late.
This content is intended for healthcare professionals only. The views expressed are those of the presenters and do not necessarily reflect those of Excellence in Pediatrics; their inclusion does not imply endorsement. The content is provided for educational purposes only and does not constitute medical advice or replace independent clinical judgement.