Global Variome shared LOVD

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Phenotype #0000228826 Individual ID 00301728 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details recurrent episodes of ketosis, and lactic acidosis usually triggered by intercurrent illness. There was no history of hyperammonemia or hypoglycemia. The frequency of the metabolic attacks is lessening with age. Urine organic acid analysis and acylcarnitine analysis were normal. Parents are consanguineous. Inheritance Familial, autosomal recessive Age/Examination 15y (15 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-05-22 17:20:34 +02:00 (CEST) Date last edited N/A

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