Phenotype #0000070606

Individual ID 00092270
Associated disease PCKDC
Phenotype details mild IDD, transient acute liver failure during viral illness, with episodes of recurrent hyperammonemia, lactic acidosis, elevated tricyclic acid metabolites, stabilization on responsive to carbohydrate rich diet, fatty liver infiltration; recurrent metabolic decompensation
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2016-12-16 19:09:22 +01:00 (CET)
Date last edited N/A

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