Information on MGCA7B
Basic details
Name: 3-methylglutaconic aciduria, type VIIB | Acronym: MGCA7B
Alt. names: 3-methylglutaconic aciduria type 7B
Gene: CLPB | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 2 | First reported in: 2015
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, although rare patients with normal neurologic development have been reported. Other common variable features include cataracts, seizures, recurrent infections due to neutropenia, and brain imaging abnormalities (summary by Wortmann et al., 2015 and Saunders et al., 2015).[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.
2 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|---|---|---|---|---|---|---|---|
102518 |
M | 214962 |
Poland | Polish | PMID:33517393 [Fam.Patient:III.2] | |||
| 102520 |
M | 214962 |
Poland | Polish | PMID:33517393 [Fam.Patient:III.4] |
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 |
17 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Global developmental delay |
15 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Neutropenia |
14 (73.7%) | 0 (0.0%) | 5 (26.3%) |
| 4 | Microcephaly |
10 (52.6%) | 0 (0.0%) | 9 (47.4%) |
| 5 | Cerebral atrophy |
8 (61.5%) | 0 (0.0%) | 5 (38.5%) |
| 6 | Neonatal hypotonia |
8 (57.1%) | 0 (0.0%) | 6 (42.9%) |
| 7 | Cataract |
7 (46.7%) | 0 (0.0%) | 8 (53.3%) |
| 8 | Cerebellar atrophy |
7 (87.5%) | 0 (0.0%) | 1 (12.5%) |
| 9 | Recurrent infections |
6 (31.6%) | 0 (0.0%) | 13 (68.4%) |
| 10 | Seizures |
6 (31.6%) | 0 (0.0%) | 13 (68.4%) |
| 11 | Feeding difficulties |
5 (35.7%) | 0 (0.0%) | 9 (64.3%) |
| 12 | Dystonia |
4 (22.2%) | 0 (0.0%) | 14 (77.8%) |
| 13 | Infantile onset |
4 (80.0%) | 0 (0.0%) | 1 (20.0%) |
| 14 | Neonatal hypoglycemia |
4 (28.6%) | 0 (0.0%) | 10 (71.4%) |
| 15 | Spasticity |
4 (28.6%) | 0 (0.0%) | 10 (71.4%) |
| 16 | Ataxia |
3 (23.1%) | 0 (0.0%) | 10 (76.9%) |
| 17 | Muscular hypotonia |
3 (60.0%) | 0 (0.0%) | 2 (40.0%) |
| 18 | Intrauterine growth retardation |
3 (21.4%) | 0 (0.0%) | 11 (78.6%) |
| 19 | Growth delay |
2 (40.0%) | 0 (0.0%) | 3 (60.0%) |
| 20 | Leukopenia |
2 (40.0%) | 0 (0.0%) | 3 (60.0%) |
| 21 | Nystagmus |
2 (14.3%) | 0 (0.0%) | 12 (85.7%) |
| 22 | Bleeding diathesis |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 23 | Bone marrow maturation arrest |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 24 | Brachioradialis areflexia |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 25 | Bulbous nose |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 26 | Choreoathetosis |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 27 | Congestive heart failure |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 28 | Decreased fetal movement |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 29 | Dehydration |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 30 | Developmental regression |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 31 | Dysarthria |
1 (7.7%) | 0 (0.0%) | 12 (92.3%) |
| 32 | Fetal onset |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 33 | Flexion contracture |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 34 | Hepatic steatosis |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 35 | Hyperkinetic movements |
1 (7.7%) | 0 (0.0%) | 12 (92.3%) |
| 36 | Hyperreflexia |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 37 | Increased CSF lactate |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 38 | Increased serum lactate |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 39 | Micrognathia |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 40 | Myoclonus |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 41 | Opisthotonus |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 42 | Periorbital fullness |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 43 | Polyhydramnios |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 44 | Prolonged prothrombin time |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 45 | Recurrent pneumonia |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 46 | Respiratory distress |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 47 | Rhizomelia |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 48 | Thrombocytopenia |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 49 | Tremor |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 50 | Trismus |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 51 | Tube feeding |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 52 | Zonular cataract |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
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.