All You Need to Know About Citrin Deficiency

This is an important topic that you should have some understanding of. It is a medical condition that leads to unstable metabolic functions that will lead to much more damage and this case may get severe in kids so it is highly recommended to keep a close watch for any such cause of the deficiency. Here we will list some symptoms that will help you to understand if someone is suffering from Citrin deficiency and is in need of niccd or Neonatal Intrahepatic Cholestasis treatment.

What is Citrin Deficiency

But first, let’s understand what is Citrin deficiency. Citrin Deficiency is an inherited autosomal recessive metabolic condition caused by mutations in the SLC25A13 gene encoding mitochondrial transporter Citrin. It is also referred to as mitochondrial aspartate glutamate carrier 2 (AGC2 or aralar2).

The symptoms of this condition

This condition can be judged by many symptoms. The symptoms are Neonatal hepatic cholestasis, Growth stagnation, Hepatomegaly, and Diffuse fatty liver and parenchymal cell infiltration. If any such symptom is visible you should refer to a doctor as soon as possible to get good consultation and medical treatment. This condition can become fatal due to infection and liver cirrhosis.

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