| | Blood gas | pH 7.346, PCO2 37.8, HCO3- 20, BE -5.5, anion gap 19.7 | | Lactate | 9.4 mmol/l fluctuating up to 16 mmol/l | | Glucose | 1 mmol/l | | Blood ketones | 0.3 mmol/L | | Liver function test | Albumin: 24 g/l, total/direct bilirubin: 213/42 μmol/l, alanine aminotransferase (ALT)/aspartate aminotransferase (AST): 52/92IU/L G-glutamyltransferase (GGT): 496 μmol/l, alkaline phosphatase: 291 μmo/l | | Ammonia | 127 micromol/l and repeated normal | | Coagulation study | PT 38 seconds, APTT 102 seconds, and INR: 3.4 | | CBC | WBCs 9.7, Hb 19.9, Ht 60, MCV 113, MCH 37.4, and platelets 245 | | Sepsis workup (blood, urine) | Negative | | Tandem mass spectrometry on dried blood spots | Increases levels of arginine, ornithine, methionine, phenylalanine, and tyrosine | | Plasma acyl-carnitines profile | Normal | | Urinary GCMS organic acids | Mild to significant elevation of:
(i) Lactic acid, 2-hydroxy butyric acid, 3-hydroxy butyric acid, and 2-hydroxy isovaleric acid
(ii) Adipic acid, 2-hydroxy sebacic acid, 3-hydroxy sebacic acid, and 3-hydroxy dodecanedioic acid (dicarboxylic acids and their metabolites)
(iii) 4-hydroxy phenylacetic acid, 4-hydroxy phenyllactic acid, and 3-hydroxy phenylpyruvic acid (tyrosine metabolites)
(iv) Phenyllactic acid, phenylpyruvic acid-2-hydroxy adipic acid, and 2-ketoadipic acid | | Urinary GCMS aminoacids | High levels of alanine, ethanolamine, glycine, phenylalanine, proline, serine, threonine, and tyrosine | | Galactose-1-phosphate uridylyltransferase (GALT) activity | Normal | | Serum ferritin | 315 ng/ml (normal) |
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