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Citrin Deficiency

Citrin Deficiency - Symptoms

What are the signs and symptoms of CD in infancy?

In babies, the signs and symptoms of CD usually begin between one and five months of age.

These include:

  • Yellowish skin and eyes (jaundice)
  • Liver problems such as cholestasis (poor bile flow), enlarged liver, fatty liver
  • Low birth weight
  • Delayed growth
  • Hypoglycaemia (low blood sugar)
  • Hyperlipidaemia (high lipid levels)

These may be seen especially when babies with CD eat foods that their bodies cannot break down, and symptoms can be triggered by long periods of fasting, illness and infection.

What are the symptoms of CD?

Signs of CD can appear any time from birth to adulthood.

1. NICCD (Neonatal intrahepatic cholestasis caused by CD)

Age of presentation
Neonates/infants (0-1 year old)

Signs & symptoms

  • Jaundice
  • Enlarged liver
  • Growth failure
  • Liver dysfunction
  • Fatty liver


2. FTTDCD (Failure to thrive and dyslipidaemia caused by CD)

Age of presentation
Childhood (> 1 year old)

Signs & symptoms
Often a silent period with no symptoms. If symptoms present, they may include:

  • Poor growth
  • Hypoglycaemia
  • Hyperlipidaemia
  • Fatty liver, pancreatitis, hepatoma


3. CTLN2 (Citrullinaemia type 2)

Age of presentation
Adolescents/adults (11-79 years old)

Signs & symptoms

  • Raised ammonia level
  • Abnormal behaviour
  • Brain oedema (swelling of brain)
  • Fatty liver, pancreatitis, hepatoma
  • Liver failure

It is important to note that not every patient with CD will develop FTTDCD or CTLN2.

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