Global Variome shared LOVD

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Phenotype #0000223060 Individual ID 00295490 Associated disease - Phenotype details Patient was three weeks old when he presented with tachypnea and malignant hyperthermia, and was diagnosed with presumed sepsis. He was admitted to the hospital three times due to recurrent andrespiratory tract infections. At six months of age, he developed generalized tonic clonic seizures, metabolic acidosis (bicarbonate, 15.4 mmol/L) and hyperammonemia (ammonia, 516μmol/L). Only then did he undergo the screening by MS/MS and GC-MS, and diagnosed with PA. Unfortunately, he died at six and a half months of age from sudden cardiac arrest. Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Yangqi Database submission license No license selected Created by Yangqi Date created 2020-03-12 09:53:44 +01:00 (CET) Date last edited 2020-04-03 12:11:02 +02:00 (CEST)

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