Information on MGCA7A
Basic details
Name: 3-methylglutaconic aciduria, type VIIA | Acronym: MGCA7A
Alt. names: 3-methylglutaconic aciduria type 7A
Gene: CLPB | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2021
Last updated on: 2023-02-28 16:41:18 by
Description
It is an inborn error of metabolism characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with variable neurologic deficits and neutropenia. The phenotype is highly variable: most patients have infantile onset of a severe progressive encephalopathy with various movement abnormalities and delayed psychomotor development. Other common variable features include seizures, recurrent infections due to neutropenia, anemia, and brain imaging abnormalities (Wortmann et al., 2021).[OMIM]
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | 3-Methylglutaconic aciduria |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Delayed speech and language development |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Global developmental delay |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Muscular hypotonia |
5 (83.3%) | 0 (0.0%) | 1 (16.7%) |
| 5 | Neonatal onset |
5 (83.3%) | 0 (0.0%) | 1 (16.7%) |
| 6 | Neutropenia |
5 (83.3%) | 0 (0.0%) | 1 (16.7%) |
| 7 | Anemia |
4 (66.7%) | 0 (0.0%) | 2 (33.3%) |
| 8 | Secondary microcephaly |
4 (66.7%) | 0 (0.0%) | 2 (33.3%) |
| 9 | Atypical absence seizure |
3 (50.0%) | 0 (0.0%) | 3 (50.0%) |
| 10 | Abnormal periventricular white matter morphology |
2 (33.3%) | 0 (0.0%) | 4 (66.7%) |
| 11 | Cerebellar atrophy |
2 (33.3%) | 0 (0.0%) | 4 (66.7%) |
| 12 | Absent speech |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 13 | Anisopoikilocytosis |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 14 | Grand mal seizures |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 15 | Delayed CNS myelination |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 16 | Generalized-onset seizure |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 17 | Infantile onset |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 18 | Myoclonic seizure |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 19 | Neonatal omphalitis |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.