TABLE 2.

Systemic Manifestations in PNPO Deficiency

Case	Prematurity	Perinatal Distress	Anemia	FTT	Constipation	Thyroid Dysfunction	Alkphos (110–400 U/L)	AST (10–65 U/L)	Ophtho
1	33 weeks	Yes	Yes	Yes	Yes	Not assessed	1011	N/a	Retinopathy
2*	35 weeks	Yes	Yes	Yes	Yes	Not assessed	WNL	50	Disc pallor
3*	35 weeks	Yes	No	No	Yes	Hypo	WNL	WNL	WNL
4	32 weeks	Yes	No	Yes	Yes	No	WNL	WNL	WNL
5	35 weeks	Yes	Yes	No	No	No	2548	WNL	Not assessed
6†	37 weeks	No	No	Yes	No	Not assessed	WNL	WNL	Not assessed
Summary	5/6	5/6	3/6	4/6	4/6	1/6	2/6	1/6	1/6

Abbreviations:

Alkphos = Alkaline phosphate

AST = Aspartate aminotransferase

FTT = Failure to thrive

Ophtho = Ophthalmology

PNPO = Pyridox(am)ine 5′-phosphate oxidase

WNL = Within normal limits

^*Patients 2 and 3 are sisters.

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