2019
DOI: 10.1002/ajmg.a.61273
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Hearing impairment as an early sign of alpha‐mannosidosis in children with a mild phenotype: Report of seven new cases

Abstract: Alpha‐mannosidosis (AM) is a very rare (prevalence: 1/500000 births) autosomal recessive lysosomal storage disorder. It is characterized by multi‐systemic involvement associated with progressive intellectual disability, hearing loss, skeletal anomalies, and coarse facial features. The spectrum is wide, from very severe and lethal to a milder phenotype that usually progresses slowly. AM is caused by a deficiency of lysosomal alpha‐mannosidase. A diagnosis can be established by measuring the activity of lysosoma… Show more

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Cited by 15 publications
(23 citation statements)
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“…Like in the previous studies it was shown that children with AM are often born apparently healthy [2] , [3] , [4] , [10] , [11] , [12] , [13] . Interestingly, we found that patients' birth length was significantly higher than general Polish population.…”
Section: Discussionsupporting
confidence: 69%
“…Like in the previous studies it was shown that children with AM are often born apparently healthy [2] , [3] , [4] , [10] , [11] , [12] , [13] . Interestingly, we found that patients' birth length was significantly higher than general Polish population.…”
Section: Discussionsupporting
confidence: 69%
“…Ten individuals had disorders of organelle biogenesis, dynamics and interactions, five neurotransmitter disorders, two congenital disorders of glycosylation (CDG), two disorders of mitochondrial cofactor biosynthesis, one disorder of mitochondrial DNA maintenance and replication, and one disorder of amino acid metabolism ( Table 1 ). Five individuals have already been published in the literature [21] , [22] , [23] , [24] . Eight of the 17 IMDs did not have known specific biomarkers ( DNML1, ADCK3, ALDH18A1, ST3GAL5, SLC13A5, SLC6A1, NGLY1, PIGN ), although two of them display non-specific elevated lactates ( DNML1, ADCK3 ).…”
Section: Resultsmentioning
confidence: 99%
“…Cerebral palsy and spastic tetraparesis were also seen in his deceased sister (TNDF617-2). A large variety of neurological and neuromuscular manifestations have been described in the literature [ 4 , 13 , 15 ]. However, microcephaly, cerebral palsy, and spastic tetraparesis observed in TNDF617 family have not been reported so far.…”
Section: Discussionmentioning
confidence: 99%
“…Recent reports have shown that HI is often the first AM clinical sign, this was the case for TNDF182-3 patient reported here. Thus, association of hearing loss to motor dysfunctions and cognitive or intellectual disabilities should evoke an AM diagnosis [ 13 , 27 ]. In the absence of adequate biochemical facilities and taking into account the limited resources in genetic screening, if the clinical presentation is consistent with AM, we recommend hotspot mutational screening at first intention for molecular confirmation of the diagnosis.…”
Section: Discussionmentioning
confidence: 99%
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