Hypermethioninemia due to deficiency of glycine N-methyltransferase

Hypermethioninemia due to deficiency of glycine N-methyltransferase (disorder)

A rare genetic inborn error of metabolism characterised by a relatively benign clinical phenotype, with only mild to moderate hepatomegaly reported, in addition to laboratory studies revealing permanent, greatly increased hypermethioninaemia, mild to moderate elevation of aminotransferases and highly elevated plasma S-adenosyl-methionine with normal S-adenosylhomocysteine and total homocysteine. The disease is caused by homozygous or compound heterozygous mutation in the GNMT gene on chromosome 6p21.

http://purl.bioontology.org/ontology/SNOMEDCT/763720007

1

Hypermethioninemia due to deficiency of glycine N-methyltransferase (disorder)

Glycine N-methyltransferase deficiency

Hypermethioninaemia due to GNMT (glycine N-methyltransferase) deficiency

Hypermethioninemia due to GNMT (glycine N-methyltransferase) deficiency

Hypermethioninaemia due to deficiency of glycine N-methyltransferase

900000000000020002

XV1vO

C1847720

A rare genetic inborn error of metabolism characterised by a relatively benign clinical phenotype, with only mild to moderate hepatomegaly reported, in addition to laboratory studies revealing permanent, greatly increased hypermethioninaemia, mild to moderate elevation of aminotransferases and highly elevated plasma S-adenosyl-methionine with normal S-adenosylhomocysteine and total homocysteine. The disease is caused by homozygous or compound heterozygous mutation in the GNMT gene on chromosome 6p21.

A rare genetic inborn error of metabolism characterized by a relatively benign clinical phenotype, with only mild to moderate hepatomegaly reported, in addition to laboratory studies revealing permanent, greatly increased hypermethioninemia, mild to moderate elevation of aminotransferases and highly elevated plasma S-adenosyl-methionine with normal S-adenosylhomocysteine and total homocysteine. The disease is caused by homozygous or compound heterozygous mutation in the GNMT gene on chromosome 6p21.

900000000000074008

20180731

763720007

http://purl.bioontology.org/ontology/SNOMEDCT/255399007

Hypermethioninemia due to deficiency of glycine N-methyltransferase

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447562003~MAPTARGET~E72.1

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900000000000497000~MAPTARGET~XV1vO

6011000124106~MAPGROUP~1

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6011000124106~MAPTARGET~E72.19

447562003~MAPGROUP~1

447562003~CORRELATIONID~447561005

6011000124106~MAPCATEGORYID~447637006

900000000000509007~ACCEPTABILITYID~900000000000548007

900000000000508004~ACCEPTABILITYID~900000000000548007

447562003~MAPPRIORITY~1

447562003~MAPCATEGORYID~447637006

6011000124106~MAPPRIORITY~1

6011000124106~CORRELATIONID~447561005

6011000124106~MAPRULE~TRUE

900000000000509007~ACCEPTABILITYID~900000000000549004

6011000124106~MAPADVICE~ALWAYS E72.19

T047

900000000000003001

900000000000013009

http://purl.bioontology.org/ontology/SNOMEDCT/66091009

http://purl.bioontology.org/ontology/SNOMEDCT/85995004

http://purl.bioontology.org/ontology/SNOMEDCT/43123004