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What are symptoms of complete urea cycle disorders (UCDs)?

ANSWER

UCDs fall into two groups:

Complete UCD: This means your baby has a severe or total lack of the enzyme. You’ll notice symptoms in the first couple of days:

  • Fussy
  • Sleepy or sluggish
  • Can’t feed
  • Vomits
  • Low body temperature
  • Problems with posture
  • Seizures
  • Fast breathing that becomes slow
  • Coma

From: What Are Urea Cycle Disorders? WebMD Medical Reference

SOURCES:

National Organization for Rare Disorders: “Ornithine Transcarbamylase Deficiency,” “Urea Cycle Disorders (UCD).”

Cincinnati Children’s: “Urea Cycle Disorder (UCD).”

Gene Reviews: “Urea Cycle Disorders Overview.”

National Organization for Rare Disorders: “Ornithine Transcarbamylase Deficiency.”

Reviewed by Hansa D. Bhargava on September 20, 2017

SOURCES:

National Organization for Rare Disorders: “Ornithine Transcarbamylase Deficiency,” “Urea Cycle Disorders (UCD).”

Cincinnati Children’s: “Urea Cycle Disorder (UCD).”

Gene Reviews: “Urea Cycle Disorders Overview.”

National Organization for Rare Disorders: “Ornithine Transcarbamylase Deficiency.”

Reviewed by Hansa D. Bhargava on September 20, 2017

NEXT QUESTION:

What are the symptoms a baby may have from a partial urea cycle disorder (UCD)?

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