Citrin Deficiency is also known as mitochondrial aspartate glutamate carrier 2. It is characterized by a food preference that might be rich in proteins or rich in lipids.
Types Of Citrin Deficiency
There are three phenotypes of Citrin deficiency
- Nenotal – NICCD or Nenotal Intahepatic Cholestasis happens with Citrin Deficiency. Children younger than age one year have a history of low birth weight with growth restriction and transient intrahepatic cholestasis. NICCD is generally not severe and symptoms often resolve by age one year with appropriate treatment, although liver transplantation has been required in rare instances.
- Child – Citrin Deficiency causes failure to thrive and Dyslipidemia. Beyond age one year, many children with citrin deficiency develop a protein-rich and/or lipid-rich food preference and aversion to carbohydrate-rich foods. Clinical abnormalities may include growth restriction, hypoglycemia, pancreatitis, severe fatigue.
- Adolescent / Adult – In adults, Citrin Deficiency causes Citrullinemia type 2. The presentation is sudden and usually between ages 20 and 50 years. Manifestations are recurrent hyperammonemia with neuropsychiatric symptoms including nocturnal delirium, aggression, irritability, hyperactivity, delusions, disorientation
- Show a preference for protein-rich and/or lipid-rich foods
- Aversion to carbohydrate-rich foods
- Growth Retardation
- Hypoglycemia (low blood sugar level)
It happens in all kinds of people. It can happen at any age but there is nothing to be afraid of as it can also be treated.