MCID: MTH046
MIFTS: 26

Methylmalonic Acidemia Without Homocystinuria

Categories: Blood diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Methylmalonic Acidemia Without Homocystinuria

MalaCards integrated aliases for Methylmalonic Acidemia Without Homocystinuria:

Name: Methylmalonic Acidemia Without Homocystinuria 52 58
Methylmalonic Aciduria Without Homocystinuria 52 58
Homocystinuria Without Methylmalonic Aciduria 58 6
Functional Methionine Synthase Deficiency 58
Methylcobalamin Deficiency 58

Characteristics:

Orphanet epidemiological data:

58
methylmalonic acidemia without homocystinuria
Inheritance: Autosomal dominant,Autosomal recessive,X-linked dominant; Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: early childhood;
homocystinuria without methylmalonic aciduria
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism
Rare haematological diseases


Summaries for Methylmalonic Acidemia Without Homocystinuria

MalaCards based summary : Methylmalonic Acidemia Without Homocystinuria, also known as methylmalonic aciduria without homocystinuria, is related to homocystinuria-megaloblastic anemia, cblg complementation type and homocystinuria-megaloblastic anemia, cble complementation type. An important gene associated with Methylmalonic Acidemia Without Homocystinuria is MTRR (5-Methyltetrahydrofolate-Homocysteine Methyltransferase Reductase). Affiliated tissues include bone, bone marrow and breast, and related phenotypes are failure to thrive and muscular hypotonia

Related Diseases for Methylmalonic Acidemia Without Homocystinuria

Graphical network of the top 20 diseases related to Methylmalonic Acidemia Without Homocystinuria:



Diseases related to Methylmalonic Acidemia Without Homocystinuria

Symptoms & Phenotypes for Methylmalonic Acidemia Without Homocystinuria

Human phenotypes related to Methylmalonic Acidemia Without Homocystinuria:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0001508
2 muscular hypotonia 58 31 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0001252
3 vomiting 58 31 hallmark (90%) Occasional (29-5%),Very frequent (99-80%) HP:0002013
4 coma 58 31 hallmark (90%) Very frequent (99-80%) HP:0001259
5 lethargy 58 31 hallmark (90%) Occasional (29-5%),Very frequent (99-80%) HP:0001254
6 megaloblastic bone marrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0001980
7 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
8 seizures 58 31 frequent (33%) Frequent (79-30%) HP:0001250
9 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
10 global developmental delay 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001263
11 cerebral cortical atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002120
12 dehydration 58 31 frequent (33%) Frequent (79-30%) HP:0001944
13 respiratory distress 58 31 frequent (33%) Frequent (79-30%) HP:0002098
14 psychosis 58 31 frequent (33%) Frequent (79-30%) HP:0000709
15 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
16 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
17 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
18 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
19 cerebral ischemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002637
20 dementia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000726

Drugs & Therapeutics for Methylmalonic Acidemia Without Homocystinuria

Search Clinical Trials , NIH Clinical Center for Methylmalonic Acidemia Without Homocystinuria

Genetic Tests for Methylmalonic Acidemia Without Homocystinuria

Anatomical Context for Methylmalonic Acidemia Without Homocystinuria

MalaCards organs/tissues related to Methylmalonic Acidemia Without Homocystinuria:

40
Bone, Bone Marrow, Breast

Publications for Methylmalonic Acidemia Without Homocystinuria

Articles related to Methylmalonic Acidemia Without Homocystinuria:

(show all 17)
# Title Authors PMID Year
1
Gene identification for the cblD defect of vitamin B12 metabolism. 6
18385497 2008
2
Disorders of Intracellular Cobalamin Metabolism 6
20301503 2008
3
Isolated Methylmalonic Acidemia 6
20301409 2005
4
cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression. 6
15714522 2005
5
CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families. 6
12555939 2002
6
Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L. 6
12068375 2002
7
Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism. 6
10484769 1999
8
Functionally null mutations in patients with the cblG-variant form of methionine synthase deficiency. 6
9683607 1998
9
Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria. 6
9501215 1998
10
Defects in human methionine synthase in cblG patients. 6
8968736 1996
11
Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders. 6
8968737 1996
12
Prenatal vitamin B12 therapy of a fetus with methylcobalamin deficiency (cobalamin E disease). 6
2860337 1985
13
Homocystinuria and megaloblastic anemia responsive to vitamin B12 therapy. An inborn error of metabolism due to a defect in cobalamin metabolism. 6
6700644 1984
14
Dihydrofolate reductase deficiency causing megaloblastic anemia in two families. 6
1060915 1976
15
Homocystinuria with methylmalonic aciduria: two cases in a sibship. 6
5524089 1970
16
Spectrum of ocular manifestations in cobalamin C and cobalamin A types of methylmalonic acidemia. 61
26979128 2016
17
Prolonged exclusive breast-feeding from vegan mother causing an acute onset of isolated methylmalonic aciduria due to a mild mutase deficiency. 61
10867733 2000

Variations for Methylmalonic Acidemia Without Homocystinuria

ClinVar genetic disease variations for Methylmalonic Acidemia Without Homocystinuria:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MTRR NM_002454.3(MTRR):c.340C>T (p.Arg114Ter)SNV Pathogenic 666994 5:7875427-7875427 5:7875314-7875314

Expression for Methylmalonic Acidemia Without Homocystinuria

Search GEO for disease gene expression data for Methylmalonic Acidemia Without Homocystinuria.

Pathways for Methylmalonic Acidemia Without Homocystinuria

GO Terms for Methylmalonic Acidemia Without Homocystinuria

Sources for Methylmalonic Acidemia Without Homocystinuria

3 CDC
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10 dbSNP
11 DGIdb
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68 SNOMED-CT via HPO
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70 Tocris
71 UMLS
72 UMLS via Orphanet
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