Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000158976 Individual ID 00210411 Associated disease GKD Phenotype details metabolic acidosis, recovered rapidly intravenous glucose therapy, did not tolerate physical exercise as well as friends, excessive physical activity elicited vomiting, hypoglycaemic symptoms, unconsciousness; glycerol serum 2.1-8.4mmol, urinary 43-280, fibroblast GK activity 1% Diagnosis/Initial glycerol kinase deficiency Inheritance Unknown Diagnosis/Definite GKD Age/Examination - Age/Diagnosis - Age/Onset 4y6m Phenotype/Onset pale, somnolent, hyperventilating, complaining severe abdominal pains Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2009-10-16 21:02:19 +02:00 (CEST) Date last edited 2013-02-01 19:44:12 +01:00 (CET)

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