Rare Diseases Symptoms Automatic Extraction

Asymptomatic maternal combined homocystinuria and methylmalonic aciduria (cblC) detected through low carnitine levels on newborn screening.

[homocystinuria without methylmalonic aciduria]

A symptom-free woman gave birth to a girl with a low carnitine level on newborn screening. The baby was unaffected, but the mother had biochemical abnormalities and mutations characteristic of the cblC defect of vitamin B(12) metabolism (late-onset form). This patient with cblC was detected through her infant's newborn screening.

Diseases presenting "late-onset form" symptom

  • adrenomyeloneuropathy
  • homocystinuria without methylmalonic aciduria

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