Vitamin B12-unresponsive methylmalonic acidemia

Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: <i>mut0</i> and <i>mut-</i> (see these terms).



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Narrow down the case reports



Total: 10 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(4.0%)		 26483233
 [Acute brainstem encephalitis and myelitis in a girl with isolated methylmalonic aciduria due to MUT gene defect].
Liu YP, Ding Y, Li XY, Wang HJ, Song JQ, Ye JT, Wu TF, Yang YL.
Zhongguo Dang Dai Er Ke Za Zhi. 2015;17(10):1103-6.
Lethargy
MMUT
c|SUB|GG|1630_1631|TA p|SUB|A|555|T;RS#:753564352 rs753564352
Acute Disease Amino Acid Metabolism, Inborn Errors Brain Stem Child, Preschool Encephalitis Females Homo sapiens Methylmalonyl-CoA Mutase Mutation Myelitis
1
(4.0%)		 26449400
 Molecular, biochemical, and structural analysis of a novel mutation in patients with methylmalonyl-CoA mutase deficiency.
Keyfi F, Sankian M, Moghaddassian M, Rolfs A, Varasteh AR.
Gene. 2016;576(1 Pt 2):208-13.
Methylmalonic aciduria
MMUT
c|SUB|C|2125-3|G
Alternative Splicing Amino Acid Metabolism, Inborn Errors Base Sequence Exons Females Homo sapiens Inborn Errors of Metabolism Infant Male Methylmalonyl-CoA Mutase Molecular Sequence Data Mutation RNA Splice Sites
1
(4.0%)		 17432548
 [Diagnosis and treatment of methylmalonic aciduria: a case report].
Mahfoud A, Dominguez CL, Perez A, Rizzo C, Merinero B, Perez B.
Invest Clin. 2007;48(1):99-105.
Acidosis
MMUT
c|SUB|C|2080|T;RS#:777758903 c|SUB|G|607|A;RS#:778702777 p|SUB|G|203|R;RS#:778702777 p|SUB|R|694|W;RS#:777758903
Acidosis Amino Acid Substitution Child, Preschool Comatose Diet, Protein-Restricted Diseases in Twins Fertilization in Vitro Genes, Recessive Homo sapiens Inborn Errors of Metabolism Male Methylmalonic Acid Methylmalonyl-CoA Mutase Missense Mutation Point Mutation Vomiting
1
(4.0%)		 16878438
 Hyperkalemia after acute metabolic decompensation in two children with vitamin B12-unresponsive methylmalonic acidemia and normal renal function.
Pela I, Gasperini S, Pasquini E, Donati MA.
Clin Nephrol. 2006;66(1):63-6.
Renal insufficiency
MMD
Child, Preschool Females Fumarates Homo sapiens Hyperkalemia Hypoaldosteronism Inborn Errors of Metabolism Infant Kidney Male Maleates
1
(4.0%)		 16750411
 Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency.
Kaplan P, Ficicioglu C, Mazur AT, Palmieri MJ, Berry GT.
Mol Genet Metab. 2006;88(4):322-6.
Renal insufficiency
MMUT
Amino Acid Metabolism, Inborn Errors Child Diet, Protein-Restricted Homo sapiens Immunosuppressive Agents Infection Kidney Male Methylmalonic Acid Methylmalonyl-CoA Mutase Tremor
1
(4.0%)		 9787093
 Methylmalonic semialdehyde dehydrogenase deficiency: psychomotor delay and methylmalonic aciduria without metabolic decompensation.
Roe CR, Struys E, Kok RM, Roe DS, Harris RA, Jakobs C.
Mol Genet Metab. 1998;65(1):35-43.
Metabolic acidosis
MMUT
Aldehyde Oxidoreductases Amino Acid Metabolism, Inborn Errors Developmental Disabilities Homo sapiens Infant Male Methylmalonic Acid Psychomotor Disorders
1
(4.0%)		 8741039
 Atypical vitamin B12-unresponsive methylmalonic aciduria in sibship with severe progressive encephalomyelopathy: a new genetic disease?
Mayatepek E, Hoffmann GF, Baumgartner R, Schulze A, Jakobs C, Trefz FK, Bremer HJ.
Eur J Pediatr. 1996;155(5):398-403.
Ophthalmoplegia
MMUT
Amino Acid Metabolism, Inborn Errors Brain Diseases Child Child, Preschool Disease Progression Fatal Outcome Females Fibroblasts Homo sapiens Male Methylmalonic Acid Nuclear Family Spinal Cord Diseases
1
(4.0%)		 7227387
 Dietary therapy in two patients with vitamin B12-unresponsive methylmalonic acidemia.
Satoh T, Narisawa K, Igarashi Y, Saitoh T, Hayasaka K, Ichinohazama Y, Onodera H, Tada K, Oohara K.
Eur J Pediatr. 1981;135(3):305-12.
Ketoacidosis
MMD
Acidosis Amino Acid Metabolism, Inborn Errors Child, Preschool Dietary Proteins Females Homo sapiens Infant Keto Acids Malonates Methylmalonic Acid
1
(4.0%)		 116077
 Deranged isoleucine metabolism during ketotic attacks in patients with methylmalonic acidaemia.
Duran M, Bruinvis L, Ketting D, Wadman SK.
J Inherit Metab Dis. 1978;1(3):105-7.
Ketoacidosis
MMUT
Acidosis Amino Acid Metabolism, Inborn Errors Child, Preschool Females Gas Chromatography Homo sapiens Ketosis Malonates Mass Spectrometry Methylmalonic Acid
1
(4.0%)		 28187
 Methylmalonic/beta-hydroxy-n-valeric aciduria due to methylmalonyl-CoA mutase deficiency.
Goodman SI, McCabe ER, Fennessey PV, Miles BS, Mace JW, Jellum E.
Clin Chim Acta. 1978;87(3):441-9.
Ketosis
MMUT
Amino Acid Metabolism, Inborn Errors Gas Chromatography Homo sapiens Hydroxy Acids Infant, Newborn Isomerase Liver Male Malonates Malonyl Coenzyme A Mass Spectrometry Methylmalonic Acid Methylmalonyl-CoA Mutase Pentanoic Acids Valerates
        

Phenotype(s) retrieved from Orphanet

    Total: 25

HPO ID Term Frequency
HP:0001254 Lethargy Very frequent (99-80%)
HP:0001259 Coma Very frequent (99-80%)
HP:0001944 Dehydration Very frequent (99-80%)
HP:0002017 Nausea and vomiting Very frequent (99-80%)
HP:0002093 Respiratory insufficiency Very frequent (99-80%)
HP:0001249 Intellectual disability Frequent (79-30%)
HP:0001252 Muscular hypotonia Frequent (79-30%)
HP:0001263 Global developmental delay Frequent (79-30%)
HP:0001873 Thrombocytopenia Frequent (79-30%)
HP:0001882 Leukopenia Frequent (79-30%)
HP:0002240 Hepatomegaly Frequent (79-30%)
HP:0000083 Renal insufficiency Occasional (29-5%)
HP:0000648 Optic atrophy Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001251 Ataxia Occasional (29-5%)
HP:0001266 Choreoathetosis Occasional (29-5%)
HP:0001638 Cardiomyopathy Occasional (29-5%)
HP:0001733 Pancreatitis Occasional (29-5%)
HP:0001903 Anemia Occasional (29-5%)
HP:0001972 Macrocytic anemia Occasional (29-5%)
HP:0001987 Hyperammonemia Occasional (29-5%)
HP:0002167 Neurological speech impairment Occasional (29-5%)
HP:0002273 Tetraparesis Occasional (29-5%)
HP:0002385 Paraparesis Occasional (29-5%)
HP:0002721 Immunodeficiency Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 5

HPO ID Term # of case reports
HP:0000083 Renal insufficiency 1
HP:0000112 Nephropathy 1
HP:0002153 Hyperkalemia 1
HP:0002912 Methylmalonic acidemia 1
HP:0012072 Aciduria 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID