Table 1.

Results of the diagnostic workup

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.

NAD (nihil abnormal detected)