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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Neonatal intrahepatic cholestasis caused by citrin deficiency


Other Names for this Disease

  • Citrin deficiency
  • Neonatal-onset citrullinemia type 2
  • Neonatal-onset citrullinemia type II
  • NICCD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

Newline Maker

What are the signs and symptoms of neonatal intrahepatic cholestasis caused by citrin deficiency?

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is characterized by transient intrahepatic cholestasis, diffuse fatty liver, hepatic fibrosis, low birth weight, growth retardation, hypoproteinemia, decreased coagulation factors, hemolytic anemia, hepatomegaly, variable liver dysfunction, and/or hypoglycemia in children younger than one year of age. NICCD is generally not severe, and symptoms typically disappear by age one year with appropriate treatment. At around age two, children with NICCD begin to show a particular fondness for protein-rich and fatty foods and an aversion to sugary and carbohydrate-rich foods. One of more decades later, some of these individuals develop neuropsychiatric symptoms characteristic of adult-onset citrullinemia type II.[1]  
Last updated: 7/11/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for Neonatal intrahepatic cholestasis caused by citrin deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Autosomal recessive inheritance -
Cirrhosis -
Elevated plasma citrulline -
Failure to thrive -
Growth delay -
Hyperbilirubinemia -
Hypercholesterolemia -
Hypermethioninemia -
Hypertriglyceridemia -
Hypoalphalipoproteinemia -
Intrahepatic cholestasis -

Last updated: 11/3/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Kobayashi K, Saheki T. Citrin Deficiency. GeneReviews. 2008; http://www.ncbi.nlm.nih.gov/books/NBK1181/. Accessed 7/11/2011.


Other Names for this Disease
  • Citrin deficiency
  • Neonatal-onset citrullinemia type 2
  • Neonatal-onset citrullinemia type II
  • NICCD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.