Table 1.

Clinical and laboratory findings in patients with NBAS deficiency described in the current study. Patients 1 and 2 are siblings.

	Patient 1	Patient 2	Patient 3
Age of patient	13 years	5 years	7 years
Mutation/amino acid change	c.5741G>A, p.Arg1914His; ex. 35-47 del.	c.5741G>A, p.Arg1914His; ex. 35-47 del.	c.5741G>A, p.Arg1914His; c.1628_1629insA, p.Ser544fs
Age at onset of disease (month)	Birth	6 months	Birth
Acute liver disease episodes with elevated transaminases (during each febrile episode)	Once	Recurring	Recurring
Recurrent acute liver failure (fever-related RALF)	–	–	+
Recurrent bacterial/viral infections	Recurrent bronchitis, several episodes of pneumonia	Pharyngitis, multiple pneumonias and two episodes of infectious gastroenteritis	Multiple pneumonias, pyelonephritis
Optic nerve atrophy	Partial	Partial	Partial
Other symptoms	Intellectual delay, diabetes mellitus type 2	Intellectual delay	Pachygyria, epilepsy, feeding difficulty, severe developmental deficiency
Skeletal findings
Osteogenesis imperfecta, bone fractures	+ (Multiple bone fractures)	+ (Forearm, femur fractures)	+ (Multiple bone fractures)
Bone anomalies (short stature, facial dysmorphism)	+	+	+
Hematological findings
Pelger–Huët anomaly of granulocytes	+	+	+
Immune thrombocytopenia	–	–	+

(+) presence of the symptom; (–) absence of the symptom.