Phenotype #0000338960

Individual ID	00449814
Associated disease	GA1
Inheritance	Unknown
Age/Onset	-
Diagnosis/Initial	-
Age/Examination	-
Diagnosis/Definite	-
Age/Diagnosis	-
Phenotype/Onset	-
Phenotype details	Medical history: no prvious hospitalization for metabolic decompensation; normal growth, developent on track; infection with COVID19 at 08m: treatment with Dextrose 10% IV fluids at 1.5 times maintenance; initial lab work showed anion gap metabolic acidosis with bicarbonate of 16, with elevated lactic acid, possibly secondary to hypoperfusion; ammonia normal, CBC normal; emergency treatment: IV lipids, her home carnitine was switched to IV; diagnosed with left otitis externa, treated with ciprodex drops, and left otitis media, treated with amoxicillin; sick day formula regimen consisting of just Anamix Early Years was prepared with no natural protein; on the next day, repeat labs revealed resolution of her metabolic acidosis, with normal bicarbonate and lactic acid levels: IV lipids were then discontinued and natural protein intake was increased to half her typical protein intake; however, she continued to have poor oral intake and fevers, and remained on Dextrose 10% IV fluids at 1.5 times maintenance until her oral intake improved on Day 3 of her hospitalization; on Day 6, protein intake was increased to the amount in her home regimen;
Protein	-
Biochem	Biochemical findings: elevated C5DC and 3-OH glutaric acid in urine
Enzyme/Activity	-
Owner name	Sabrina Oeser
Database submission license
Created by	Sabrina Oeser
Date created	2024-05-16 08:49:25 +02:00 (CEST)
Date last edited	N/A