IEMbase 0258: AGA-related Aspartylglucosaminidase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 258 |
| Nosology | 20.3.07.01 |
| Gene | AGA |
| External IDs | OMIM:208400; ORPHA:93 |
| Generated mapping | MAPPED; Aspartylglucosaminuria.yaml |
| Candidate DisMech targets | Aspartylglucosaminuria.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as AGA-related aspartylglucosaminidase deficiency, with alternate labels aspartylglucosaminuria and AGU. The record is autosomal recessive and treatability is marked yes.
The treatment section lists hematopoietic stem cell transplant as a stem-cell strategy with level 4-5 evidence and PMID 15316370. Biochemical rows include decreased aspartylglucosaminidase activity in fibroblasts, lymphocytes, and white blood cells, plus increased urinary aspartylglucosamine. Clinical rows include angiokeratoma, clubfoot, axial muscular hypotonia, and vacuolated lymphocytes.
DisMech phenotype coverage
Aspartylglucosaminuria.yaml is the correct local target. The local entry
covers biallelic AGA pathogenic variants, deficient lysosomal
aspartylglucosaminidase/glycosylasparaginase activity, glycoasparagine and
aspartylglucosamine accumulation, urinary aspartylglucosamine, progressive
neurodevelopmental and behavioral disease, seizures, speech impairment, systemic
connective-tissue and skeletal findings, recurrent infections, hepatosplenic
involvement, enzyme testing, molecular testing, supportive care, hematopoietic
stem cell transplantation with lack-of-benefit caveats, preclinical enzyme
replacement, and preclinical AAV9/AGA therapy.
Concordance and completeness
Judgement: correct mapping with high biochemical concordance and a treatment interpretation caveat.
IEMbase and DisMech agree on AGA/AGU identity, autosomal recessive inheritance, reduced aspartylglucosaminidase activity, and urinary aspartylglucosamine elevation. IEMbase adds concise rows for angiokeratoma, clubfoot, axial hypotonia, and vacuolated lymphocytes. DisMech is much broader clinically and mechanistically. The treatment rows need nuance: IEMbase lists transplant as a treatment, whereas DisMech explicitly records that limited transplant attempts have not shown clear benefit.
Curation actions
- Keep this record mapped to
Aspartylglucosaminuria.yaml. - Do not import the transplant row as unqualified effective therapy without the local lack-of-benefit caveat.
- Use IEMbase's angiokeratoma, clubfoot, axial hypotonia, and vacuolated lymphocyte rows as future phenotype review prompts.