MCID: MTH021
MIFTS: 37

Methylmalonic Acidemia with Homocystinuria malady

Categories: Rare diseases, Metabolic diseases, Blood diseases

Aliases & Classifications for Methylmalonic Acidemia with Homocystinuria

Aliases & Descriptions for Methylmalonic Acidemia with Homocystinuria:

Name: Methylmalonic Acidemia with Homocystinuria 50 25 56
Methylmalonic Acidemia and Homocystinemia 50 25
Methylmalonic Acidemia and Homocystinuria 25 29
Vitamin B12 Metabolic Defect with Combined Deficiency of Methylmalonyl-Coa Mutase and Homocysteine:methyltetrahydrofolate Methyltransferase 25
Vitamin B12 Metabolic Defect with Combined Deficiency of Methylmalonyl-Coa Mutase and Methionine Synthase Activities 25
Combined Defect in Adenosylcobalamin and Methylcobalamin Synthesis 56
Methylmalonic Aciduria with Homocystinuria 56
Methylmalonic Aciduria and Homocystinuria 25

Characteristics:

Orphanet epidemiological data:

56
methylmalonic acidemia with homocystinuria
Inheritance: Autosomal recessive,X-linked recessive; Age of onset: All ages;

Classifications:



External Ids:

Orphanet 56 ORPHA26
MESH via Orphanet 43 C537359
UMLS via Orphanet 70 C1848561
ICD10 via Orphanet 34 E71.1

Summaries for Methylmalonic Acidemia with Homocystinuria

NIH Rare Diseases : 50 methylmalonic acidemia with homocystinuria is an inherited disorder in which the body is unable to properly process certain nutrients from food including amino acids, lipids and cholesterol. people with this disorder have a combination of features from two separate conditions: methylmalonic acidemia and homocystinuria. when the condition begins early in life, babies have difficulty gaining weight (failure to thrive), feeding difficulties, and a pale appearance. babies may also have weak muscle tone (hypotonia) and seizures. most babies and children with this condition have an unusually small head size (microcephaly), intellectual disability and developmental delay. less common features of the condition include eye problems and a blood disorder called megaloblastic anemia. when the disorder begins in adolescence or adulthood, the signs and symptoms usually include behavior and personality changes and cognitive problems (issues with learning, memory, perception etc). in some cases, abilities are lost, resulting in a decline of performance, memory and speech problems, dementia and lethargy.[12470 methylmalonic acidemia with homocystinuria can be caused by mutations in one of several genes: mmachc, mmadhc, lmbrd1, abcd4, or hcfc1. mutations in these genes account for the different types of the disorder, cblc, cbld, cblf, cblj, and cblx, respectively. although there is no cure for this conditions, treatment may include intramuscular injections of hydroxycobalamin, oral betaine, and folic acid.  last updated: 10/31/2016

MalaCards based summary : Methylmalonic Acidemia with Homocystinuria, also known as methylmalonic acidemia and homocystinemia, is related to methylmalonic acidemia with homocystinuria type cbld and methylmalonic acidemia with homocystinuria type cblj, and has symptoms including fatigue, seizures and lethargy. An important gene associated with Methylmalonic Acidemia with Homocystinuria is MMACHC (Methylmalonic Aciduria (Cobalamin Deficiency) CblC Type, With Homocystinuria), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Diseases of metabolism. The drugs Hydroxocobalamin and Folic Acid have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and bone.

Genetics Home Reference : 25 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.

Related Diseases for Methylmalonic Acidemia with Homocystinuria

Graphical network of the top 20 diseases related to Methylmalonic Acidemia with Homocystinuria:



Diseases related to Methylmalonic Acidemia with Homocystinuria

Symptoms & Phenotypes for Methylmalonic Acidemia with Homocystinuria

Human phenotypes related to Methylmalonic Acidemia with Homocystinuria:

56 32 (show all 18)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 56 32 Very frequent (99-80%) HP:0012378
2 seizures 56 32 Very frequent (99-80%) HP:0001250
3 lethargy 56 32 Very frequent (99-80%) HP:0001254
4 hydrocephalus 56 32 Frequent (79-30%) HP:0000238
5 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
6 muscular hypotonia 56 32 Very frequent (99-80%) HP:0001252
7 gait disturbance 56 32 Frequent (79-30%) HP:0001288
8 failure to thrive 56 32 Very frequent (99-80%) HP:0001508
9 behavioral abnormality 56 32 Frequent (79-30%) HP:0000708
10 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
11 microcephaly 56 32 Very frequent (99-80%) HP:0000252
12 retinopathy 56 32 Very frequent (99-80%) HP:0000488
13 feeding difficulties 56 32 Very frequent (99-80%) HP:0011968
14 skin rash 56 32 Occasional (29-5%) HP:0000988
15 megaloblastic bone marrow 56 32 Very frequent (99-80%) HP:0001980
16 abnormality of movement 56 Frequent (79-30%)
17 malformation of the heart and great vessels 56 Frequent (79-30%)
18 abnormality of cardiovascular system morphology 32 HP:0030680

UMLS symptoms related to Methylmalonic Acidemia with Homocystinuria:


lethargy, seizures

Drugs & Therapeutics for Methylmalonic Acidemia with Homocystinuria

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

(show all 16)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxocobalamin Approved Phase 2 13422-51-0 11953898 5460373 44475014
2
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
3
Cyanocobalamin Approved, Nutraceutical Phase 2 68-19-9 44176380
4 Ubiquinone Phase 2
5 Hematinics Phase 2
6 Trace Elements Phase 2
7 Vitamin B 12 Phase 2
8 Vitamin B Complex Phase 2
9 Vitamins Phase 2
10 Micronutrients Phase 2
11 Antioxidants Phase 2
12 Folate Nutraceutical Phase 2
13 Vitamin B12 Nutraceutical Phase 2
14
Cobalamin Nutraceutical Phase 2 13408-78-1 6438156
15
Methylcobalamin Experimental, Nutraceutical Phase 2 13422-55-4
16 Vitamin B9 Nutraceutical Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment Completed NCT01793090 Phase 2

Search NIH Clinical Center for Methylmalonic Acidemia with Homocystinuria

Genetic Tests for Methylmalonic Acidemia with Homocystinuria

Genetic tests related to Methylmalonic Acidemia with Homocystinuria:

id Genetic test Affiliating Genes
1 Methylmalonic Acidemia with Homocystinuria 29

Anatomical Context for Methylmalonic Acidemia with Homocystinuria

MalaCards organs/tissues related to Methylmalonic Acidemia with Homocystinuria:

39
Eye, Heart, Bone, Skin, Bone Marrow, Kidney

Publications for Methylmalonic Acidemia with Homocystinuria

Articles related to Methylmalonic Acidemia with Homocystinuria:

id Title Authors Year
1
Methylmalonic acidemia with homocystinuria. A very rare cause of kidney failure in the neonatal period. ( 25036075 )
2014

Variations for Methylmalonic Acidemia with Homocystinuria

ClinVar genetic disease variations for Methylmalonic Acidemia with Homocystinuria:

6 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1 MMACHC NM_015506.2(MMACHC): c.271dupA (p.Arg91Lysfs) duplication Pathogenic rs398124292 GRCh38 Chromosome 1, 45507545: 45507545
2 MMACHC NM_015506.2(MMACHC): c.347T> C (p.Leu116Pro) single nucleotide variant Pathogenic rs121918240 GRCh37 Chromosome 1, 45973954: 45973954
3 MMACHC NM_015506.2(MMACHC): c.394C> T (p.Arg132Ter) single nucleotide variant Pathogenic rs121918241 GRCh37 Chromosome 1, 45974001: 45974001
4 MMACHC NM_015506.2(MMACHC): c.331C> T (p.Arg111Ter) single nucleotide variant Pathogenic rs121918242 GRCh37 Chromosome 1, 45973938: 45973938
5 MMACHC NM_015506.2(MMACHC): c.609G> A (p.Trp203Ter) single nucleotide variant Pathogenic rs587776889 GRCh37 Chromosome 1, 45974647: 45974647
6 MMACHC MMACHC, 3-BP DEL, 658AAG deletion Pathogenic
7 MMACHC NM_015506.2(MMACHC): c.481C> T (p.Arg161Ter) single nucleotide variant Pathogenic rs370596113 GRCh37 Chromosome 1, 45974519: 45974519
8 MMACHC NM_015506.2(MMACHC): c.547_548delGT (p.Val183Thrfs) deletion Pathogenic rs398124293 GRCh37 Chromosome 1, 45974585: 45974586
9 MMACHC NM_015506.2(MMACHC): c.608G> A (p.Trp203Ter) single nucleotide variant Pathogenic rs398124295 GRCh37 Chromosome 1, 45974646: 45974646
10 MMACHC NM_015506.2(MMACHC): c.658_660delAAG (p.Lys220del) deletion Pathogenic rs398124296 GRCh37 Chromosome 1, 45974696: 45974698
11 MMACHC NM_015506.2(MMACHC): c.276G> T (p.Glu92Asp) single nucleotide variant Pathogenic rs556977618 GRCh37 Chromosome 1, 45973222: 45973222
12 MMACHC NM_015506.2(MMACHC): c.276G> A (p.Glu92=) single nucleotide variant Pathogenic rs556977618 GRCh37 Chromosome 1, 45973222: 45973222
13 MMACHC NM_015506.2(MMACHC): c.464G> A (p.Gly155Glu) single nucleotide variant Pathogenic rs606231425 GRCh37 Chromosome 1, 45974502: 45974502
14 MMACHC NM_015506.2(MMACHC): c.615C> G (p.Tyr205Ter) single nucleotide variant Pathogenic rs747527726 GRCh37 Chromosome 1, 45974653: 45974653
15 MMACHC NM_015506.2(MMACHC): c.270dupT (p.Arg91Terfs) duplication Pathogenic GRCh37 Chromosome 1, 45973216: 45973216

Expression for Methylmalonic Acidemia with Homocystinuria

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

Pathways for Methylmalonic Acidemia with Homocystinuria

Pathways related to Methylmalonic Acidemia with Homocystinuria according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.74 ABCD4 MMACHC MMADHC
2
Show member pathways
11.14 MMACHC MMADHC
3 10.14 ABCD4 MMACHC MMADHC

GO Terms for Methylmalonic Acidemia with Homocystinuria

Biological processes related to Methylmalonic Acidemia with Homocystinuria according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cobalamin metabolic process GO:0009235 8.8 ABCD4 MMACHC MMADHC

Sources for Methylmalonic Acidemia with Homocystinuria

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16 ExPASy
18 FMA
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65 SNOMED-CT via Orphanet
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70 UMLS via Orphanet
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