Details of Disease | DrugMAP

General Information of Disease (ID: DISZQIZM)

Disease Name	Methylcobalamin deficiency type cblG
Synonyms	homocystinuria-megaloblastic anemia, cblG complementation type; methionine synthase deficiency; cblG; methylcobalamin deficiency Cbl G type; homocystinuria due to defect in methylation Cbl g; HMAG; homocystinuria-megaloblastic Anaemia due to defect in cobalamin metabolism, cblG complementation type; homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblG complementation type; methylcobalamin deficiency, cblG type; methylmalonic aciduria and homocystinuria type cblG; functional methionine synthase deficiency type cblG; methylcobalamin deficiency type cblG
Definition	Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine.
Disease Hierarchy	DISX5RWD: Homocystinuria without methylmalonic aciduria DISZQIZM: Methylcobalamin deficiency type cblG
Disease Identifiers	MONDO ID MONDO_0009609 MESH ID C565394 UMLS CUI C1855128 OMIM ID 250940 MedGen ID 344426 Orphanet ID 2170

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MTR	TTUTO39	Strong	Biomarker	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
MTR	DEWSHL5	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MTR	OTF2K2TA	Definitive	Autosomal recessive	[2]
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References

1	Intractable Epilepsy due to MTR Deficiency: Importance of Homocysteine Analysis.Neuropediatrics. 2017 Dec;48(6):467-472. doi: 10.1055/s-0037-1603976. Epub 2017 Jun 30.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.