Vitamin B12-responsive methylmalonic acidemia type cblA

General Information (adopted from Orphanet):

Synonyms, Signs: Vitamin B12-responsive methylmalonic aciduria type cblA
METHYLMALONIC ACIDEMIA, cblA TYPE
METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblA TYPE
Number of Symptoms 30
OrphanetNr: 79310
OMIM Id: 251100
ICD-10: E71.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 60 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Vitamin B12-responsive methylmalonic acidemia
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0012120) Methylmalonic aciduria 20 / 7739
2
 (HPO:0001250) Seizures 1245 / 7739
3
 (HPO:0001259) Coma 65 / 7739
4
 (HPO:0001337) Tremor 200 / 7739
5
 (HPO:0001254) Lethargy 104 / 7739
6
 (HPO:0001263) Global developmental delay 853 / 7739
7
 (HPO:0002240) Hepatomegaly 467 / 7739
8
 (HPO:0002013) Vomiting 191 / 7739
9
 (HPO:0011968) Feeding difficulties 240 / 7739
10
 (HPO:0001508) Failure to thrive 454 / 7739
11
 (HPO:0001876) Pancytopenia 89 / 7739
12
 (HPO:0001873) Thrombocytopenia 224 / 7739
13
 (HPO:0001903) Anemia 289 / 7739
14
 (HPO:0001875) Neutropenia 83 / 7739
15
 (HPO:0001944) Dehydration 59 / 7739
16
 (HPO:0001987) Hyperammonemia 50 / 7739
17
 (HPO:0001946) Ketosis 17 / 7739
18
 (HPO:0002912) Methylmalonic acidemia 14 / 7739
19
 (HPO:0001942) Metabolic acidosis 81 / 7739
20
 (HPO:0003145) Decreased adenosylcobalamin 10 / 7739
21
 (HPO:0002154) Hyperglycinemia 12 / 7739
22
 (HPO:0003210) Decreased methylmalonyl-CoA mutase activity 7 / 7739
23
 (HPO:0002098) Respiratory distress 75 / 7739
24
 (HPO:0001324) Muscle weakness 859 / 7739
25
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
26
 (HPO:0001252) Muscular hypotonia 990 / 7739
27
 (HPO:0010547) Muscle flaccidity 466 / 7739
28
 (OMIM) Normal serum cobalamin 7 / 7739
29
 (OMIM) Ketosis is exacerbated by protein ingestion 1 / 7739
30
 (OMIM) Long-chain ketonuria 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Different forms of isolated methylmalonic aciduria have been classified according to complementation groups of cells in vitro. Patients with defects in the synthesis ...
Diagnosis OMIM - Prenatal Diagnosis

By culture of amniotic cells, Ampola et al. (1975) performed prenatal diagnosis of MMA due to deficient synthesis of AdoCbl. Methylmalonic acid was elevated in the amniotic fluid and maternal urine. Treatment with ...
Clinical Description OMIM Rosenberg et al. (1968, 1968) described an 8-month-old boy with profound metabolic acidosis, developmental retardation, and an unusual biochemical triad: methylmalonic aciduria, long chain ketonuria, and intermittent hyperglycinemia. Valine, isoleucine, or high protein intake accentuated the biochemical abnormalities. ...
Molecular genetics OMIM In cell lines from 5 patients with MMA cblA, Dobson et al. (2002) identified 4 mutations in the MMAA gene (607481.0001-607481.0004).