Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency

Table 2 Summary of clinical, biochemical and molecular data of nine patients with ADSL type II

Pt	Sex	Onset	Age of diagnosis	First sign	PMR	Tone	Seizure			MRI	Eye phenotype	S-Ado urine	Genotype	Head circumference (centile)
1	F	6 months	9 years	PMR + seizure	+	Hypotonia	Yes	Good	No	Normal	Strabismus + Nystagmus	115.45	R309H/c.1191 + 5G > C	50–85
7	M	6 months	4 years	PMR	+	Normal	Yes	Good	Yes	Normal	Strabismus	ND	Y114H/G418A	85–97
8	M	6 months	2 years	PMR	+	Normal	Yes	Good	Yes	Normal	Normal	322.4	Y114H/G418A	85–97
10°	M	2 years	17 years	PMR	+	Hypotonia	No	NA	No	Normal	Normal	22.3	M26L/R396H	97
11°	F	2 years	13 years	PMR	+	Hypotonia	No	NA	No	Normal	Normal	19.9	M26L/R396H	97
12	M	At birth	2 years	Nystagmus + PMR + congenital torticollis	++	Hypotonia + spasticity	No	NA	Yes	Cerebral atrophy + hypomyelination	Strabismus + Nystagmus	ND	R426H/R426H	50
15	M	At birth	3 years	Hypotonia	+	Normal	Yes	Good	No	Normal	Normal	122.5	E343K/E343K	97
16	M	4 months	3 years	PMR	+	Hypotonia	Yes	Good	Yes	Normal	Strabismus	469	R426H/D430D	3
18	F	3 years	12 years	PMR + seizure	+	Normal	Yes	Complete	No	Normal	Normal	175.95	T450S/D332H	97

ASD, autism spectrum disorder. MRI, magnetic resonance imaging
*Four patients presented sterotypies, Patient 12 with poor eye contact, aggressiveness and hyperactivity. Patients 12 and 16 with inappropriate laughter. PMR, psychomotor retardation: +, walking unassisted after 3 years, ++, never acquired standing position and walking unassisted, +++, never acquired sitting position. Urinary values are in millimoles/mol creatinine. °Patients with a new very mild phenotype

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