Back to Search
Start Over
Aspartylglucosaminuria caused by a novel homozygous mutation in the AGA gene was identified by an exome-first approach in a patient from Japan.
- Source :
-
Brain & Development . May2017, Vol. 39 Issue 5, p422-425. 4p. - Publication Year :
- 2017
-
Abstract
- Background Aspartylglucosaminuria (AGU) is an autosomal recessive lysosomal storage disorder caused by a deficiency of the lysosomal enzyme, aspartylglucosaminidase (AGA). This disorder is rare in the general population except in Finland. Since the most characteristic feature of this disorder is a progressive developmental regression, patients often show no specific symptoms in the initial stages, and thus early diagnosis is often challenging. Case report We encountered a 16-year-old boy who began to show difficulties in his speech at the age of 6 years. Due to a mild regression in his development, he gradually lost common daily abilities. His diagnosis was first obtained through exome sequencing that identified a novel homozygous mutation in the AGA gene. This result was reasonable because of parental consanguinity. Reduced enzymatic activity of AGA was then confirmed. His urine was retrospectively screened by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF-MS) and a specific pattern of abnormal metabolites was identified. Conclusions Because both exome sequencing and MALDI-TOF-MS screening are adaptable and comprehensive, future combinatory use of these methods would be useful for diagnosis of rare inborn errors of metabolism such as AGU. [ABSTRACT FROM AUTHOR]
- Subjects :
- *ASPARTYLGLUCOSAMINURIA
*GENETIC mutation
*EXOMES
*INBORN errors of metabolism
Subjects
Details
- Language :
- English
- ISSN :
- 03877604
- Volume :
- 39
- Issue :
- 5
- Database :
- Academic Search Index
- Journal :
- Brain & Development
- Publication Type :
- Academic Journal
- Accession number :
- 122332140
- Full Text :
- https://doi.org/10.1016/j.braindev.2016.12.004