Rare Diseases Symptoms Automatic Extraction

Cobalamin C disease presenting with hemophagocytic lymphohistiocytosis.

[homocystinuria without methylmalonic aciduria]

Cobalamin C disease is a rare genetic condition resulting in methylmalonic aciduria, homocystinuria, and hematologic abnormalities. Clinical characteristics include ophthalmologic findings and neurological abnormalities, such as microcephaly, seizure, and mental retardation. The authors report on a 4-month-old patient initially diagnosed with hemophagocytic lymphohistiocytosis (HLH), who was later diagnosed with cobalamin C disease.

Diseases presenting "homocystinuria" symptom

  • adrenomyeloneuropathy
  • cohen syndrome
  • homocystinuria without methylmalonic aciduria
  • primary hyperoxaluria type 1
  • pyruvate dehydrogenase deficiency

This symptom has already been validated