The natural history of classic galactosemia: lessons from the GalNet registry

Table 2 Neonatal illness

	n	Valid n	%
Acute neonatal illness^a	332	416	79.8
Elevated liver enzymes (ALT, AST > 30 U/L)	211	300	70.3
Bleeding diathesis (abnormal PT/ APTT)	128	301	42.5
Encephalopathy^b	71	245	29.0
Signs of infection	96	351	27.4
Positive blood culture	36	64	56.3
Cataract	68	264	25.8
Hypoglycemia (< 2.6 mmol/L)	65	259	25.1
Increased neonatal Gal-1-P (> 0.05 μmol/g Hb or > 10 mg/dL)	89	98	90.8

^aDefined as having one of the following symptoms: encephalopathy, bleeding diathesis, signs of infection, elevated liver enzymes or hypoglycemia
^bAltered mental state: depressed consciousness with or without neurological signs

ISSN: 1750-1172