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IEMbase 0039: SLC36A2/SLC6A20/SLC6A19-related iminoglycinuria

Scope

Field Value
IEMbase ID 39
Nosology 1.11.02.01
Gene SLC36A2; SLC6A20; SLC6A19
External IDs OMIM:242600
Generated mapping UNMAPPED
Candidate DisMech targets none currently valid
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents iminoglycinuria as a benign amino-acid transporter phenotype involving urinary loss of imino acids and glycine. The biochemical signal is increased urinary proline, increased urinary 4-hydroxyproline, and increased urinary glycine. Prevalence is listed as 1:15,000, subtype is "benign form," and the characteristic clinical row is "No clinical significance." No treatment rows are present.

DisMech phenotype coverage

There is no current DisMech entry or subtype for iminoglycinuria. Although one of the listed genes, SLC6A19, overlaps with Hartnup disease, Hartnup disease is not a valid mapping target. The local Hartnup entry centers on SLC6A19/B0AT1 neutral amino-acid transport, tryptophan/nicotinamide biology, pellagra-like rash, ataxia, neuropsychiatric episodes, and neutral aminoaciduria. IEMbase iminoglycinuria instead tracks proline, hydroxyproline, and glycine loss and is explicitly clinically benign.

Concordance and completeness

Judgement: generated unmapped status is correct. This is not a hidden Hartnup match despite partial gene overlap.

IEMbase has enough information to identify the biochemical transporter phenotype, but the record does not describe a mechanism-rich clinical disorder. Given DisMech's mechanism-first disease scope, this may be lower priority than the severe serine, GABA, and glutamine metabolism disorders in the same batch.

Curation actions

  • Do not map this record to Hartnup_Disease.yaml.
  • If curated, decide explicitly whether benign iminoglycinuria is in scope as a disease entry or better handled as a biochemical trait/transport phenotype.
  • Preserve the multigene transporter framing rather than reducing the disease to SLC6A19 alone.