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Algorithm for ketotic hypoglycemia and increased free fatty acids. Critical samples to obtain when blood glucose <50: serum ketones, free fatty acids,
insulin, C-peptide, plasma acylcarnitines, lactate, growth hormone, cortisol, plasma free carnitine, urine organic acids, creatinine kinase, ammonia, liver
enzymes, plasma amino acids. PA, propionic aciduria; 3-OH-PA, 3-hydroxypropionic acid; C3, propionylcarnitine; MGA, 3-methyglutaconic aciduria; C5,
isovalerylcarnitine; 3-MGA, 3-methyglutaconic acid; 3-OH-IVA, 3-hydroxyisovaleric acid; IVA, isovaleric aciduria; MMA, methylmalonic
aciduria/methylmalonic acid; GH, growth hormone; LH, luteinizing hormone; FSH, follicle stimulating hormone; ADH, anti-diuretic hormone; FT4, free
thyroxine; MMA, methylmalonic acid; Igf-1, insulin-like growth factor 1; ACTH, adrenocorticotropic hormone; SCOT, succinyl-CoA-3-ketoacid CoA
Source: Emergency Assessment and Management of Suspected Inborn Errors of Metabolism and Endocrine Disorders, Pediatric Endocrinology
transferase deficiency; MCT1, monocarboxylate transporter 1 deficiency; T2, β-ketothiolase deficiency; GSD, glycogen storage disease; PEPCK,
and Inborn Errors of Metabolism, 2e
phosphoenolpyruvate carboxykinase deficiency; PC, pyruvate carboxylase deficiency; FBP1, fructose 1,6 biphosphatase deficiency; HFI, hereditary
Citation: Sarafoglou K, Hoffmann GF, Roth KS. Pediatric Endocrinology and Inborn Errors of Metabolism, 2e; 2017 Available at:
fructose intolerance.
http://mhmedical.com/ Accessed: August 11, 2017
aElevated plasma acylcarnitines
that are characteristic of the disease.
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b