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Table 2 Proband’s metabolic investigations

From: The effect of homozygous deletion of the BBOX1 and Fibin genes on carnitine level and acyl carnitine profile

FBS (P) 98 mg/dL Sodium (P) 140 mEq/L
BUN (P) 11 mg/dL Potassium (P) 3.8 mEq/L
Creatinine (P) 0.6 mg/dL Chloride (P) 102 mEq/L
Cholesterol (P) 164 mg/dL 17-OH-Progesterone (DBS) < 5 nmol/L
Triglyceride (P) 63 mg/dL TSH (DBS) < 4 mU/L
HDL (P) 49 mg/dL Ketone (U) Negative
LDL (P) 102 mg/dL Amino-acid TLC (U) Normal pattern
SGOT (P) 22 IU/L Ferric Chloride Test (U) Negative
SGPT (P) 18 IU/L DNPH Test (U) Negative
CPK (P) 167 IU/L Na-Nitropruside Test (U) Negative
Lactate (P) 7.8 mg/dL Amino-acids (DBS) (TMS) unremarkable
Ammonia (B) 44 mcg/dL Acylcarnitines (DBS) (TMS)* unremarkable*
Galactose (DBS) < 18 mg/dL Isovalerylcarnitine (DBS) unremarkable
GALT (DBS) > 20% act Glutaric acid (DBS) unremarkable
PH (VBG) 7.392 Citrulline (DBS) unremarkable
PCO2 (VBG) 32.1 mmHg Arginosuccinate (DBS) unremarkable
HCO3 (VBG) 19 mmol/L Succinylacetone (DBS) <5 μmol/L
BE (VBG) -3.4 mmol/L Biotinidase (DBS) >40%act
  1. *The detailed acylcarnitines results are further detailed in Table 3.
  2. P: Plasma, B: Blood, U: Urine, FBS: Fasting Blood Sugar, BUN: Blood Urea Nitrogen, HDL: High Density Lipoprotein, LDL: Low Density Lipoprotein, SGOT: Serum Glutamic Oxaloacetic Transaminase, SGPT: Serum Glutamic Pyruvic Transaminase, CPK: Creatine Phosphokinase, GALT: Galactose-1-phosphate uridylyltransferase, VBG: venous Blood Gas, BE: Base Excess, TSH: Thyroid Stimulating Hormone, TLC: Thin Layer Chromatography, DNPH: Dinitrophenyl Hydrazine, DBS: Dry Blood Spot, TMS: Tandem Mass Spectroscopy.