Table 1 Results of the diagnostic workup
From: NBAS mutations cause acute liver failure: when acetaminophen is not a culprit
Tests | Result | Reference Range |
|---|---|---|
Serum APAP concentration (9 h after the last administration) | 7.2 mg/mL | 10.0–30.0 mg/mL |
PCR for CMV/EBV/HHV6/HHV1–2/ Adenovirus/Parvovirus B19/Paramixovirus/HBV/HCV/HIV | Negative | Negative |
Serology for HAV/HBV/HIV/HHV6/Parvovirus B19/HHV1–2/Paramixovirus/Enterovirus | Negative | Negative |
Plasma aminoacidogram, acylcarnitine profile, urinary organic acids, orotic acid, succinylacetone and δ-aminolevulinic acid measurements | N.A.D. | N.A.D |
Ammonium | 266–479 μg/dL during crisis, repeatedly normal between crisis | < 125 μg/dL |
Serum transferrin isoelectrofocusing | Normal profile | |
Ceruloplasmin | 25 ng/ml | >20 ng/ml |
Urinary copper level | 10 μg/die | <40 μg/die |
Autoantibody (ANA, ASMA, LKM AMA) | Negative | Negative |
CPK | 81UI/L | 25–190 UI/L |
Colesterol Trygliceride | 130 mg/dL 60 mg/dL | <105 mg/dL 150–200 mg/dL |
Glicemia | 90 mg/dL | 70–100 mg/dL |
IgG;IgA;IgM | 1120 mg/dL;92 mg/dL;112 mg/dL | (605–1230 mg/dL) (30–198 mg/dL) (45–200 mg/dL) |
Lymphocyte subpopulations | Normal for age | Normal for age |
EEG | Slight diffuse cerebral suffering during latest crisis, otherwise normal | Normal |
Brain Magnetic Resonance Imaging | Normal for age | Normal for age |
Echocardiogram | N.A.D. | N.A.D. |
Muscle biopsy | Normal respiratory chain enzyme activity | Normal respiratory chain enzyme activity |
Renal tubular function | N.A.D. | N.A.D. |
DGUOK/POLG sequencing | No mutations | |
Exome sequencing | Two heterozygous variant (frameshift and missense) in NBAS | Absent from >120.000 control alleles of the ExAC browser an in about 7500 in-house control exomes (Munich Exome Server) |
Rx skeletal | N.AD. | N.A.D. |
Ophthalmologic evaluation | N.A.D. | N.A.D. |