Details of Disease | DrugMAP

General Information of Disease (ID: DISI3RCT)

Disease Name	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
Synonyms	hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency; psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency; hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency; hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
Definition	Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterized by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels.
Disease Hierarchy	DISC7OZE: Disorder of methionine catabolism DISI3RCT: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
Disease Identifiers	MONDO ID MONDO_0013404 MESH ID C564683 UMLS CUI C3151058 OMIM ID 613752 MedGen ID 462408 Orphanet ID 88618 SNOMED CT ID 724040000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
AHCY	TTE2KUJ	moderate	Biomarker	[1]
AHCY	TTE2KUJ	Strong	Autosomal recessive	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AHCY	OT8UC40I	Strong	Autosomal recessive	[2]
GNMT	OT0O2OQO	Strong	Biomarker	[3]
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References

1	Non-Immune Hydrops, Hypotonia, Encephalopathy, and Liver Failure with Novel Compound Heterozygous AHCY Mutations.Neonatology. 2018;114(4):337-340. doi: 10.1159/000489292. Epub 2018 Aug 17.
2	S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism. Proc Natl Acad Sci U S A. 2004 Mar 23;101(12):4234-9. doi: 10.1073/pnas.0400658101. Epub 2004 Mar 15.
3	Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolism. Hum Genet. 2002 Jan;110(1):68-74. doi: 10.1007/s00439-001-0648-4. Epub 2001 Dec 7.