TABLE 1.

Neurological Manifestations in PNPO Deficiency

Case	Paroxysmal or Movement Disorder	Regression	CSF P5P (30–80 nmol/L)	Seizures at Presentation	Ongoing Seizures at Discharge
1	Yes	No	<5	Yes	Yes
2*	Yes	Yes	16	Yes	Yes
3*	No	No	25	Yes	Yes
4	No	No	15	Yes	Yes
5	No	No	52	Yes	Rare
6†	Yes	No	23	Yes	Yes
Summary	3/6	1/6	5/6	6/6	5/6

Abbreviations:

CSF = Cerebrospinal fluid

MRI = Magnetic resonance imaging

P5P = Pyridoxal-5-phosphate

PVL = Periventricular leukomalacia

SDH = Subdural hemorrhage.

^*Patients 2 and 3 are sisters.

^†Patient 6 was first described in Pearl et al.⁹