Table 1 Clinical and biochemical features at presentation of patients with hyperornithinaemia–hyperammonaemia–homocitrullinuria syndrome with the delF188 mutation

Patient	Age, years	Reason for referral	Clinical features		Liver dysfunction		Plasma concentration at diagnosis
Patient	Age, years	Reason for referral	Failure to thrive	Developmental delay	Cyto-lysis	Coagulo-pathy	NH₃*, μmol/L	Ornithine†, μmol/L	AST‡,UI/L	ALT§,UI/L
1	8	Status epilepticus, chronic encephalopathy	+	+	+	+	216	700	128	214
2¶	3.5	Liver dysfunction, coagulopathy	–	+	+	–	325	606	457	150
3	1.3	Psychomotor delay, failure to thrive	+	+	+	+	217	1083	190	63
4¶	12	Mental retardation	–	+	–	–	64	515	NA	NA
5	1.2	Psychomotor delay	–	+	+	+	109	727	29	86
6**	5.3	Liver dysfunction, coagulopathy	–	+	+	+	119	343	128	88
7	1	Acute hepatitis, hepatomegaly, coagulopathy	+	+	+	+	49	642	1503	450
8	3.6	Recurrent hepatitis	–	+	+	+	139	432	336	217
9	2.4	Hepatitis, hepatomegaly, coagulopathy	–	–	+	+	54	310	329	81
10	0.25	Neonatal screening	–	–	–	–	173	397	26	31
11	2.0	Liver dysfunction, hepatomegaly	+	+	+	–	315	337	185	144
12	15	Acute encephalopathy, migraine, confusion	–	–	–	+	125	431	44	38
13	16	Acute encephalopathy	+	+	+	NA	250	227	120	50
14	2	Psychomotor delay	+	+	–	NA	100	581	NA	39
15	3	Spastic diplegia	+	+	NA	NA	120	529	NA	NA
16	1.5	Psychomotor delay, mild spasticity	+	+	+	NA	58	348	102	NA
Summary	2.7††		8/16†	13/16†	10/15†	8/12†	146 (85)‡‡	513 (212)‡‡	–	–

NA, not available; NH₃, ammonia.
*Higher postprandial plasma concentration before treatment; normal value <80 μmol/L. †Initial plasma concentration before treatment; normal value <135 μmol/L. ‡Normal value <45 UI/L. §Normal value <45 UI/L. ¶Patients 2 and 4 are siblings. **Patient 6 has a genetic compound of delF188 and an as yet unknown allele. ††Median. ‡‡Number of patients/total in group. §§Mean (SD).