Vitamin B12-unresponsive methylmalonic acidemia type mut0

General Information (adopted from Orphanet):

Synonyms, Signs: Vitamin B12-unresponsive methylmalonic aciduria type mut0
Complete deficiency of methylmalonyl-CoA mutase
METHYLMALONIC ACIDURIA, mut TYPE METHYLMALONIC ACIDURIA, mut(0) TYPE, INCLUDED
METHYLMALONIC ACIDURIA, mut(-) TYPE, INCLUDED
METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY MMA DUE TO MCM DEFICIENCY
Number of Symptoms 46
OrphanetNr: 289916
OMIM Id: 251000
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: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (HPO:0001947) Renal tubular acidosis Frequent [IBIS] 27519416 IBIS 21 / 7739
2
 (HPO:0012622) Chronic kidney disease Frequent [IBIS] 27519416 IBIS 32 / 7739
3
 (HPO:0001993) Ketoacidosis Frequent [IBIS] 27519416 IBIS 17 / 7739
4
 (HPO:0001970) Tubulointerstitial nephritis Frequent [IBIS] 27519416 IBIS 27 / 7739
5
 (HPO:0012120) Methylmalonic aciduria Very Frequent [IBIS] 27519416 IBIS 20 / 7739
6
 (HPO:0000124) Renal tubular dysfunction Occasional [Orphanet] 27519416 IBIS 46 / 7739
7
 (HPO:0003774) Stage 5 chronic kidney disease 78 / 7739
8
 (HPO:0000083) Renal insufficiency Occasional [Orphanet] 232 / 7739
9
 (HPO:0004305) Involuntary movements Occasional [Orphanet] 50 / 7739
10
 (HPO:0001263) Global developmental delay 853 / 7739
11
 (HPO:0001332) Dystonia Occasional [Orphanet] 197 / 7739
12
 (HPO:0004372) Reduced consciousness/confusion Very frequent [Orphanet] 73 / 7739
13
 (HPO:0001259) Coma 27519416 IBIS 65 / 7739
14
 (HPO:0004374) Hemiplegia/hemiparesis Occasional [Orphanet] 158 / 7739
15
 (HPO:0001254) Lethargy Frequent [IBIS] 27519416 IBIS 104 / 7739
16
 (HPO:0002017) Nausea and vomiting Very frequent [Orphanet] 134 / 7739
17
 (HPO:0001733) Pancreatitis Occasional [Orphanet] 46 / 7739
18
 (HPO:0002240) Hepatomegaly Frequent [Orphanet] 467 / 7739
19
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
20
 (HPO:0001508) Failure to thrive Frequent [IBIS] 27519416 IBIS 454 / 7739
21
 (HPO:0011695) Cerebellar hemorrhage 6 / 7739
22
 (HPO:0001638) Cardiomyopathy 192 / 7739
23
 (HPO:0001882) Leukopenia 51 / 7739
24
 (HPO:0001903) Anemia Occasional [Orphanet] 289 / 7739
25
 (HPO:0001873) Thrombocytopenia Frequent [Orphanet] 224 / 7739
26
 (HPO:0001874) Abnormality of neutrophils Occasional [Orphanet] 47 / 7739
27
 (HPO:0005979) Metabolic ketoacidosis Frequent [IBIS] 27519416 IBIS 4 / 7739
28
 (HPO:0001944) Dehydration 59 / 7739
29
 (HPO:0001987) Hyperammonemia Occasional [Orphanet] 50 / 7739
30
 (HPO:0002154) Hyperglycinemia 12 / 7739
31
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
32
 (HPO:0100806) Sepsis Occasional [Orphanet] 48 / 7739
33
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
34
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
35
 (HPO:0001324) Muscle weakness 859 / 7739
36
 (HPO:0010547) Muscle flaccidity 466 / 7739
37
 (OMIM) Severe involvement of globus pallidus 3 / 7739
38
 (OMIM) Neonatal or infantile metabolic ketoacidosis Frequent [IBIS] 27519416 IBIS 3 / 7739
39
 (OMIM) Ischemic stroke in the basal ganglia (rare) 4 / 7739
40
 (OMIM) Methylmalonyl-CoA mutase deficiency 3 / 7739
41
 (OMIM) Low plasma free and total carnitine 3 / 7739
42
 (OMIM) Normal serum cobalamin 7 / 7739
43
 (OMIM) Recurrent episodes of vomiting 3 / 7739
44
 (OMIM) Delay in myelination 3 / 7739
45
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet], Frequent [IBIS] 27519416 IBIS 949 / 7739
46
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 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. Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. This form ...
Diagnosis OMIM Wilkemeyer et al. (1991) showed that the mut and cbl forms of MMA can be differentiated not only by somatic cell complementation but also by DNA-mediated gene transfer of a methylmalonyl CoA mutase cDNA clone. Transfer of the ...
Clinical Description OMIM The clinical spectrum of methylmalonic aciduria is wide, ranging from a benign condition (Ledley et al., 1984) to fatal neonatal disease (Matsui et al., 1983).

Oberholzer et al. (1967) reported an inborn error of metabolism characterized ...
Molecular genetics OMIM In a patient with MMA mut(0), defined as having no residual enzyme activity, Jansen and Ledley (1990) identified compound heterozygosity for 2 mutations in the MUT gene (609058.0001 and 609058.0002).

In a patient with MMA mut(-), ...