Sleep‐related hypermotor seizures in aspartylglucosaminuria: A case report

Ambrosetto, G.; Santucci, Margherita

doi:10.1111/j.1528-1167.2008.01991.x

Cited by 4 publications

(2 citation statements)

References 15 publications

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“…The oral health is impaired in almost all adult patients. Every third patient suffers from epileptic seizures (often nocturnal frontal lobe epilepsy), every fifth from psychiatric disorders and every 20 th from rheumatoid arthritis as an associated condition [19–23]. There are many laboratory and imaging findings characteristic to AGU, which are of no clinical significance.…”

Section: Clinical Descriptionmentioning

confidence: 99%

Aspartylglycosaminuria: a review

Arvio

Mononen

2016

Orphanet J Rare Dis

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Aspartylglucosaminuria (AGU), a recessively inherited lysosomal storage disease, is the most common disorder of glycoprotein degradation with a high prevalence in the Finnish population. It is a lifelong condition affecting on the patient’s appearance, cognition, adaptive skills, physical growth, personality, body structure, and health. An infantile growth spurt and development of macrocephalia associated to hernias and respiratory infections are the key signs to an early identification of AGU. Progressive intellectual and physical disability is the main symptom leading to death usually before the age of 50 years.The disease is caused by the deficient activity of the lysosomal enzyme glycosylasparaginase (aspartylglucosaminidase, AGA), which leads to a disorder in the degradation of glycoasparagines – aspartylglucosamine or other glycoconjugates with an aspartylglucosamine moiety at their reducing end – and accumulation of these undegraded glycoasparagines in tissues and body fluids. A single nucleotide change in the AGA gene resulting in a cysteine to serine substitution (C163S) in the AGA enzyme protein causes the deficiency of the glycosylasparaginase activity in the Finnish population. Homozygosity for the single nucleotide change causing the C163S mutation is responsible for 98% of the AGU cases in Finland simplifying the carrier detection and prenatal diagnosis of the disorder in the Finnish population. A mouse strain, which completely lacks the Aga activity has been generated through targeted disruption of the Aga gene in embryonic stem cells. These Aga-deficient mice share most of the clinical, histopathologic and biochemical characteristics of human AGU disease. Treatment of AGU mice with recombinant AGA resulted in rapid correction of the pathophysiologic characteristics of AGU in non-neuronal tissues of the animals. The accumulation of aspartylglucosamine was reduced by up to 40% in the brain tissue of the animals depending on the age of the animals and the therapeutic protocol. Enzyme replacement trials on human AGU patients have not been reported so far. Allogenic stem cell transplantation has not proved effective in curing AGU.

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Section: Clinical Descriptionmentioning

confidence: 99%

Aspartylglycosaminuria: a review

Arvio

Mononen

2016

Orphanet J Rare Dis

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“…Adolescent AGU patients may also experience behavioral or mental health issues, and adults have increased risk of seizures. 44 -46 Dental problems may also appear in adolescence and adulthood. 56…”

Section: Path To Diagnosismentioning

confidence: 99%

Aspartylglucosaminuria: Clinical Presentation and Potential Therapies

Goodspeed

Feng²,

Lainé

et al. 2021

J Child Neurol

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Aspartylglucosaminuria (AGU) is a recessively inherited neurodegenerative lysosomal storage disease characterized by progressive intellectual disability, skeletal abnormalities, connective tissue overgrowth, gait disturbance, and seizures followed by premature death. AGU is caused by pathogenic variants in the aspartylglucosaminidase ( AGA) gene, leading to glycoasparagine accumulation and cellular dysfunction. Although more prevalent in the Finnish population, more than 30 AGA variants have been identified worldwide. Owing to its rarity, AGU may be largely underdiagnosed. Recognition of the following early clinical features may aid in AGU diagnosis: developmental delays, hyperactivity, early growth spurt, inguinal and abdominal hernias, clumsiness, characteristic facial features, recurring upper respiratory and ear infections, tonsillectomy, multiple sets of tympanostomy tube placement, and sleep problems. Although no curative therapies currently exist, early diagnosis may provide benefit through the provision of anticipatory guidance, management of expectations, early interventions, and prophylaxis; it will also be crucial for increased clinical benefits of future AGU disease-modifying therapies.

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Oligosaccharidoses

Leroy

2013

Emery and Rimoin's Principles and Practice of Medical Genetics

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Sleep‐related hypermotor seizures in aspartylglucosaminuria: A case report

Cited by 4 publications

References 15 publications

Aspartylglycosaminuria: a review

Aspartylglycosaminuria: a review

Aspartylglucosaminuria: Clinical Presentation and Potential Therapies

Oligosaccharidoses

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