Vitamin B12-responsive methylmalonic acidemia type cblB

General Information (adopted from Orphanet):

Synonyms, Signs: METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE
Vitamin B12-responsive methylmalonic aciduria, type cblB
METHYLMALONIC ACIDEMIA, cblB TYPE
Number of Symptoms 30
OrphanetNr: 79311
OMIM Id: 251110
ICD-10: E71.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
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:0002919) Ketonuria 18 / 7739
3
 (HPO:0001263) Global developmental delay 853 / 7739
4
 (HPO:0001259) Coma 65 / 7739
5
 (HPO:0001254) Lethargy 104 / 7739
6
 (HPO:0002013) Vomiting 191 / 7739
7
 (HPO:0002240) Hepatomegaly 467 / 7739
8
 (HPO:0011968) Feeding difficulties 240 / 7739
9
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
10
 (HPO:0001508) Failure to thrive 454 / 7739
11
 (HPO:0001903) Anemia 289 / 7739
12
 (HPO:0001875) Neutropenia 83 / 7739
13
 (HPO:0001876) Pancytopenia 89 / 7739
14
 (HPO:0001873) Thrombocytopenia 224 / 7739
15
 (HPO:0002154) Hyperglycinemia 12 / 7739
16
 (HPO:0001946) Ketosis 17 / 7739
17
 (HPO:0001942) Metabolic acidosis 81 / 7739
18
 (HPO:0003145) Decreased adenosylcobalamin 10 / 7739
19
 (HPO:0003210) Decreased methylmalonyl-CoA mutase activity 7 / 7739
20
 (HPO:0001987) Hyperammonemia 50 / 7739
21
 (HPO:0002912) Methylmalonic acidemia 14 / 7739
22
 (HPO:0001944) Dehydration 59 / 7739
23
 (HPO:0002098) Respiratory distress 75 / 7739
24
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
25
 (HPO:0001252) Muscular hypotonia 990 / 7739
26
 (HPO:0001324) Muscle weakness 859 / 7739
27
 (HPO:0010547) Muscle flaccidity 466 / 7739
28
 (HPO:0003623) Neonatal onset 22 / 7739
29
 (OMIM) Normal serum cobalamin 7 / 7739
30
 (HPO:0000007) Autosomal recessive inheritance 2538 / 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 ...
Clinical Description OMIM Fenton and Rosenberg (1981) reported deficiency of cob(I)alamin transferase in the cblB type of methylmalonic acidemia.

Dobson et al. (2002) reported the clinical features of 6 patients with the cblB type, confirmed by molecular analysis. Age ...
Molecular genetics OMIM Dobson et al. (2002) analyzed fibroblast cell lines from 6 cblB patients and identified 6 mutations in the MMAB gene (see, e.g., 607568.0001). One of the patients had been reported by Fenton and Rosenberg (1981).