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Task D-003 · Type D — Disease → mechanism

What is the biochemical mechanism by which HGD deficiency produces the ochronotic pigment seen in alkaptonuria?

Difficulty
medium
Rarity stratum
sparse
Evidence type
review consensus
MONDO ID
MONDO:0008753
Curator notes

None material.

Generation outcome

Abstained
No
Abstention correct
Yes
Gold in retrieved
2.00
Generation cost
$0.000418
Claims
3
Supported
3
Contradicted
0
Unverifiable
0

Gold documents (2)

  • Alkaptonuria.
    pubmed:38453957retrieved ✓source
  • Alkaptonuria: Current Perspectives.
    pubmed:32158253retrieved ✓source

Retrieved documents (6)

  • Alkaptonuria: Current Perspectives.
    pubmed:32158253gold
  • Ochronosis Presenting as Methemoglobinemia.
    pubmed:30229904
  • Alkaptonuria.
    pubmed:20229718
  • Ochronotic Chondropathy: A Case Report.
    pubmed:37892999
  • Alkaptonuria.
    pubmed:38453957gold
  • Alkaptonuria in Russia.
    pubmed:34504318

Generated claims (3)

supportedconfidence 0.90

Alkaptonuria is characterized by the accumulation of homogentisic acid (HGA), which leads to the formation of a dark brown ochronotic pigment in connective tissues.

pubmed:34504318pubmed:32158253pubmed:38453957
supportedconfidence 0.85

The deficiency of homogentisate 1,2-dioxygenase (HGD) enzyme causes the accumulation of HGA, which is responsible for the ochronotic pigmentation seen in alkaptonuria.

pubmed:34504318pubmed:32158253pubmed:38453957
supportedconfidence 0.90

The ochronotic pigment results from the deposition of homogentisic acid (HGA) in collagen-rich connective tissues, leading to the characteristic blue-gray discoloration.

pubmed:30229904pubmed:38453957