MCID: MTH021
MIFTS: 25

Methylmalonic Acidemia with Homocystinuria malady

Categories: Rare diseases, Metabolic diseases, Blood diseases

Aliases & Classifications for Methylmalonic Acidemia with Homocystinuria

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Sources:
45NIH Rare Diseases, 23Genetics Home Reference, 51Orphanet, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Methylmalonic Acidemia with Homocystinuria:

Name: Methylmalonic Acidemia with Homocystinuria 45 23 51
Methylmalonic Acidemia and Homocystinuria 23 24
Methylmalonic Acidemia and Homocystinemia 45 23
Vitamin B12 Metabolic Defect with Combined Deficiency of Methylmalonyl-Coa Mutase and Homocysteine:methyltetrahydrofolate Methyltransferase 23
 
Vitamin B12 Metabolic Defect with Combined Deficiency of Methylmalonyl-Coa Mutase and Methionine Synthase Activities 23
Combined Defect in Adenosylcobalamin and Methylcobalamin Synthesis 51
Methylmalonic Aciduria with Homocystinuria 51
Methylmalonic Aciduria and Homocystinuria 23

Characteristics:

Orphanet epidemiological data:

51
methylmalonic acidemia with homocystinuria:
Inheritance: Autosomal recessive,X-linked recessive; Age of onset: All ages

Classifications:



External Ids:

Orphanet51 26
ICD10 via Orphanet28 E71.1
MESH via Orphanet37 C537359
UMLS via Orphanet66 C1848561

Summaries for Methylmalonic Acidemia with Homocystinuria

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Genetics Home Reference:23 Methylmalonic acidemia with homocystinuria is an inherited disorder in which the body is unable to properly process protein building blocks (amino acids), certain fats (lipids), and a waxy fat-like substance called cholesterol. Individuals with this disorder have a combination of features from two separate conditions, methylmalonic acidemia and homocystinuria. The signs and symptoms of the combined condition, methylmalonic acidemia with homocystinuria, usually develop in infancy, although they can begin at any age.

MalaCards based summary: Methylmalonic Acidemia with Homocystinuria, also known as methylmalonic acidemia and homocystinuria, is related to methylmalonic acidemia with homocystinuria, type cbld and methylmalonic acidemia with homocystinuria, type cblj, and has symptoms including abnormality of the oral cavity, microcephaly and retinopathy. An important gene associated with Methylmalonic Acidemia with Homocystinuria is MMACHC (Methylmalonic Aciduria (Cobalamin Deficiency) CblC Type, With Homocystinuria). Affiliated tissues include skin.

Related Diseases for Methylmalonic Acidemia with Homocystinuria

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Diseases related to Methylmalonic Acidemia with Homocystinuria via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1methylmalonic acidemia with homocystinuria, type cbld12.8
2methylmalonic acidemia with homocystinuria, type cblj12.7
3methylmalonic acidemia with homocystinuria, type cblx12.6
4methylmalonic aciduria and homocystinuria, cblf type12.1
5methylmalonic aciduria and homocystinuria, cblc type11.9
6tularemia10.3

Graphical network of diseases related to Methylmalonic Acidemia with Homocystinuria:



Diseases related to methylmalonic acidemia with homocystinuria

Symptoms for Methylmalonic Acidemia with Homocystinuria

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Symptoms:

 51 (show all 17)
  • microcephaly
  • retinopathy
  • enanthema/aphtosa/aphta/leukoplakia
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • hypotonia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • obnubilation/coma/lethargia/desorientation
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • megaloblastic anemia
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • asthenia/fatigue/weakness
  • congenital cardiac anomaly/malformation/cardiopathy
  • hydrocephaly
  • abnormal gait
  • movement disorder
  • psychic/behavioural troubles
  • cutaneous rash

HPO human phenotypes related to Methylmalonic Acidemia with Homocystinuria:

(show all 13)
id Description Frequency HPO Source Accession
1 abnormality of the oral cavity hallmark (90%) HP:0000163
2 microcephaly hallmark (90%) HP:0000252
3 retinopathy hallmark (90%) HP:0000488
4 seizures hallmark (90%) HP:0001250
5 muscular hypotonia hallmark (90%) HP:0001252
6 megaloblastic anemia hallmark (90%) HP:0001889
7 reduced consciousness/confusion hallmark (90%) HP:0004372
8 feeding difficulties in infancy hallmark (90%) HP:0008872
9 cognitive impairment hallmark (90%) HP:0100543
10 hydrocephalus typical (50%) HP:0000238
11 behavioral abnormality typical (50%) HP:0000708
12 gait disturbance typical (50%) HP:0001288
13 skin rash occasional (7.5%) HP:0000988

Drugs & Therapeutics for Methylmalonic Acidemia with Homocystinuria

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Drugs for Methylmalonic Acidemia with Homocystinuria (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
HydroxocobalaminapprovedPhase 222713422-51-011953898, 5460373, 44475014
Synonyms:
13422-51-0
22465-48-1
78091-12-0
8017-22-9
Acti-B12
AlphaRedisol
AlphaRedisol (TN)
Axion
Axlon
Benzimidazolyl ribofuranosyl phosphate deriv.
C08230
C62H85CoN13O15P
CHEBI:27786
CHEMBL1200742
CHEMBL235822
CID11622291
CID11953898
CID5460373
CID6433575
CID6474319
Ciplamin H
Coalpha-[alpha-(5,6-dimethylbenzimidazolyl)]-Cobeta-hydroxocobamide
Cobalex
Cobalin H
Cobinamide dihydroxide dihydrogen phosphate (ester), mono(inner salt), 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosylbenzimidazole
Cobinamide hydroxide phosphate 3'-ester with 5,6-dimethyl-1-a-D-ribofuranosylbenzimidazole inner salt
Cobinamide hydroxide phosphate 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosylbenzimidazole inner salt
Cobinamide hydroxide phosphate 3'-ester with 5,6-dimethyl-1-alpha-delta-ribofuranosylbenzimidazole inner salt
Cobinamide, Co-hydroxy-, dihydrogen phosphate (ester), inner salt, 3'-ester with (5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole-kappaN3)
Cobinamide, Co-hydroxy-, f-(dihydrogen phosphate), inner salt, 3'-ester with (5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole-kappaN3)
Cobinamide, dihydroxide, dihydrogen phosphate (ester), mono (inner salt), 3'- ester with 5,6-dimethyl-1-alpha-D-ribofuranosylbenzimidazole
Cobinamide, dihydroxide, dihydrogen phosphate (ester), mono(inner salt), 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole
Cobinamide, hydroxide, dihydrogen phosphate (ester), inner salt, 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole
Codroxomin
Cyanokit
Cyanokit (TN)
D01027
DB00200
Depogamma
Docclan
Docelan
Docelvita
Docevita
Droxomin
Ducobee Hy
Ducobee-Hy
Duradoce
Duralta-12
EINECS 236-533-2
HSDB 3342
HYDROXOCOBALAMIN
Hidroxocobalamina
Hidroxocobalamina [INN-Spanish]
 
Hydro Cobex
Hydrobamine
Hydrocobalamin
Hydrogrisevit
Hydrovit
Hydroxocobalamin
Hydroxocobalamin (JAN/USP/INN)
Hydroxocobalamin Vitamin B12
Hydroxocobalamin [USAN:INN:BAN:JAN]
Hydroxocobalamin acetate
Hydroxocobalamin monohydrochloride
Hydroxocobalamin(alkaline soln.), OH- replaces CN- in Cyanocobalamin)
Hydroxocobalaminacetat
Hydroxocobalamine
Hydroxocobalamine [INN-French]
Hydroxocobalaminum
Hydroxocobalaminum [INN-Latin]
Hydroxocobemine
Hydroxomin
Hydroxy Cobal
Hydroxy vitamin B12
Hydroxycob(lll)alamin
Hydroxycobalamin
Hydroxycobalamine
Hyxobamine
Idrogrisevit
Idrossocobalamina
Idrossocobalamina [DCIT]
LS-54607
Lyovit-H
Neo-Betalin 12
Neo-cytamen
Neo-macrabin
Neo-rojamin
OH-Cbl
OH-Duphar
Ohb12
Oxobemin
Oxolamine (arcum)
Primabalt RP
Redisol-H
S1668_Selleck
Sytobex-H
UNII-Q40X8H422O
Vibeden
Vitadurin
Vitamin B(sub 12a)
Vitamin B-12b
Vitamin B12a
Vitamin B12b
a-(5,6-Dimethylbenzimidazolyl)hydroxocobamide
alpha Cobione
alpha-(5,6-Dimethylbenzimidazolyl)hydroxocobamide
vitamin B-12b
2
Cyanocobalaminapproved, nutraceuticalPhase 222768-19-944176380
Synonyms:
Anacobin
Bedoz
Berocca PN
Berubigen
Betalin 12
Betalin 12 Crystalline
Betaline-12
Betolvex
Bevidox
Bevidox concentrate
Biocobalamine
Byladoce
Cabadon m
Cernevit-12
Cobadoce forte
Cobalin
Cobavite
Cobex
Cobolin-M
Copharvit 5000
Covit
Crystamin
Crystamine
Crysti-12
Crystimin
Crystwel
Cyano-B12
Cyanobalamin concentrate
Cyanocob(III)alamin
Cyanocobalamin
Cyanocobalamin (JP15/USP)
Cyanocobalamin Co 57 Schilling Test Kit
Cyanocobalamine
Cyanocobalmin
Cyanoject
Cycobemin
Cycolamin
Cykobemin
Cykobeminet
Cyomin
Cyredin
Cytacon
Cytamen
Cytobion
Depinar
Dicopac
Dicopac Kit
Dimethylbenzimidazoylcobamide
Distivit
Docemine
Docibin
Docivit
Dodecabee
Dodecavite
Dodex
Duodecibin
Embiol
Emociclina
Eritrone
 
Erycytol
Erythrotin
Euhaemon
Extrinsic factor
Factor II
Fermin
Fresmin
Hemomin
Hepagon
Hepavis
Hepcovite
Hylugel plus
Infuvite Pediatric
Lactobacillus lactis dorner factor
M.V.I. Pediatric
Macrabin
Megabion
Megalovel
Milbedoce
Millevit
Nagravon
Nascobal
Nascobal (TN)
Neuroforte-R
Normocytin
Novidroxin
Pernaemon
Pernaevit
Pernipuron
Plecyamin
Poyamin
Primabalt
Rebramin
Redamina
Redisol
Rhodacryst
Rubesol
Rubivite
Rubramin
Rubramin PC
Rubratope-57 Kit
Rubratope-60 Kit
Rubripca
Rubrocitol
Ruvite
Shovite
Sytobex
Vi-Twel
Vibal
Vibalt
Vibisone
Virubra
Vita-rubra
Vitabee 12
Vitamin B12
Vitamin B12 Preparation
Vitamin B12 complex
Vitaped
Vitarubin
Vitral
vitamine b12
3Vitamin B 12Phase 2227
4AntioxidantsPhase 22442
5Vitamin B12NutraceuticalPhase 2227
6
CobalaminNutraceuticalPhase 222713408-78-16438156
Synonyms:
5,6-Dimethyl-1-a-D-ribofuranosyl-1H-benzimidazole
5,6-Dimethyl-1-a-D-ribofuranosylbenzimidazole
5,6-Dimethyl-1-alpha-delta-ribofuranosyl-1H-benzimidazole
5,6-Dimethyl-1-alpha-delta-ribofuranosylbenzimidazole
Cob(III)alamin
Cobalamin (III)
Cobalamine
 
Cobinamide ion(1+) dihydrogen phosphate (ester) inner salt 3'-ester
Cobinamide ion(1+) dihydrogen phosphate (ester) inner salt 3'-ester with 5,6-dimethyl-1-alpha-delta-ribofuranosyl-1H-benzimidazole
Hydroxomin
Rubivite
Rubratope-57
Rubratope-60
Ruvite
Vitamin B12
7
MethylcobalaminNutraceuticalPhase 222613422-55-4
Synonyms:
Algobaz
Co-Methylcobalamin
Hitocobamin M
MeCbl
Mecobalamin
Methycobal
 
Methyl cobalamine
Methyl vitamin B12
Methyl-5,6-dimethylbenzimidazolylcobalamin
Methyl-B12
Methylcob(III)alamin
Methylcobalamin
Methylcobaz

Interventional clinical trials:

idNameStatusNCT IDPhase
1EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological ImpairmentActive, not recruitingNCT01793090Phase 2
2Treatment of Advanced Renal Cell Carcinoma With QuinacrineWithdrawnNCT00574483Phase 2

Search NIH Clinical Center for Methylmalonic Acidemia with Homocystinuria

Genetic Tests for Methylmalonic Acidemia with Homocystinuria

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Anatomical Context for Methylmalonic Acidemia with Homocystinuria

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MalaCards organs/tissues related to Methylmalonic Acidemia with Homocystinuria:

33
Skin

Animal Models for Methylmalonic Acidemia with Homocystinuria or affiliated genes

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Publications for Methylmalonic Acidemia with Homocystinuria

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Articles related to Methylmalonic Acidemia with Homocystinuria:

idTitleAuthorsYear
1
Functional and radiographic outcomes of juvenile osteochondritis dissecans of the knee treated with extra-articular retrograde drilling. (21828362)
2011

Variations for Methylmalonic Acidemia with Homocystinuria

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Clinvar genetic disease variations for Methylmalonic Acidemia with Homocystinuria:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MMACHCNM_015506.2(MMACHC): c.271dupA (p.Arg91Lysfs)duplicationLikely pathogenic, Pathogenicrs398124292GRCh38Chr 1, 45507545: 45507545
2MMACHCNM_015506.2(MMACHC): c.482G> A (p.Arg161Gln)single nucleotide variantLikely pathogenic, Pathogenicrs121918243GRCh37Chr 1, 45974520: 45974520
3MMACHCNM_015506.2(MMACHC): c.271dupA (p.Arg91Lysfs)duplicationLikely pathogenic, Pathogenicrs398124292GRCh38Chr 1, 45507545: 45507545

Expression for genes affiliated with Methylmalonic Acidemia with Homocystinuria

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Search GEO for disease gene expression data for Methylmalonic Acidemia with Homocystinuria.

Pathways for genes affiliated with Methylmalonic Acidemia with Homocystinuria

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GO Terms for genes affiliated with Methylmalonic Acidemia with Homocystinuria

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Sources for Methylmalonic Acidemia with Homocystinuria

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet