IEMbase 0597: HAO1-related hydroxyacid oxidase 1 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 597 |
| Nosology | 13.1.03.01 |
| Gene | HAO1 |
| External IDs | OMIM:605023 |
| Generated mapping | UNMAPPED; best candidate TACO1-Related_COX_Deficiency.yaml |
| Candidate DisMech targets | HAO1-Related_Glycolate_Oxidase_Deficiency.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents HAO1-related hydroxyacid oxidase 1 deficiency, with alternate labels glycolate oxidase 1 deficiency, isolated glycolic aciduria, and GOX. The record is autosomal recessive, classified under disorders of glyoxylate and oxalate metabolism, has unknown treatability, and has no treatment rows.
Biochemical rows include normal urinary citric acid, normal-to-very-increased urinary oxalic acid, normal urinary glyceric acid, and very increased urinary glycolic acid. Clinical rows include achalasia, nephrolithiasis, psychomotor delay, alacrima, and anisocoria.
DisMech phenotype coverage
HAO1-Related_Glycolate_Oxidase_Deficiency.yaml is the correct local target.
It models autosomal recessive HAO1/glycolate oxidase deficiency, impaired
hepatic glyoxylate precursor metabolism, isolated hyperglycolic aciduria,
normal oxalate/citrate/glycerate in the index family, and a cautious knowledge
gap around whether hyperoxaluria is ever a direct HAO1 consequence.
TACO1-Related_COX_Deficiency.yaml is a false-positive generated candidate
from mitochondrial/organic-acid neighborhood signals. It models TACO1-related
Complex IV deficiency and Leigh syndrome, not HAO1/glyoxylate metabolism.
Concordance and completeness
Judgement: generated false negative; resolve to
HAO1-Related_Glycolate_Oxidase_Deficiency.yaml.
IEMbase and DisMech agree on HAO1 identity, autosomal recessive inheritance, glycolate oxidase deficiency, isolated glycolic aciduria, very high urinary glycolic acid, and normal glycerate/citrate. IEMbase adds urinary oxalate and nephrolithiasis prompts that overlap with the local knowledge gap, but the local entry is more cautious: it treats hyperoxaluria as observed in one case and not yet proven as a general downstream consequence.
The IEMbase achalasia, alacrima, anisocoria, and psychomotor-delay rows are not obvious consequences of the local HAO1 mechanism and should be source-reviewed before import.
Curation actions
- Promote this record to
HAO1-Related_Glycolate_Oxidase_Deficiency.yaml. - Reject
TACO1-Related_COX_Deficiency.yamlas an exact mapping. - Preserve urinary oxalate and nephrolithiasis as source-review prompts tied to the existing HAO1 hyperoxaluria knowledge gap.
- Source-review achalasia, alacrima, anisocoria, and psychomotor-delay rows before adding them to DisMech.