Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency

Table 1 Summary of clinical, biochemical and molecular data of seven patients with ADSL type I

Pt	Sex	Onset	Age of Diagnosis	First sign	PMR	Tone	Response to anticonvulsive treatment	ASD*	MRI	Eye phenotype	S-Ado CSF	Genotype	Head circumference (centile)
2	M	At birth	17 years	PMR	++	Hypotonia + spasticity	Partial	No	Cerebral and cerebellar atrophy	Strabismus	456.67	R426H/R426H	50
3	M	8 weeks	16 years	Seizure	+	Hypotonia + spasticity	Complete	No	Cerebral atrophy	Strabismus	856.43	R426H/R426H	50–85
4	M	4 months	7 months	PMR + seizure	+++	Hypotonia + spasticity	Partial	No	Cerebral atrophy	Strabismus	673.49	R426H/R426H	50–85
5	F	1 month	2 years	Seizure	+++	Hypotonia + spasticity	Refractory	No	Cerebral atrophy	No	ND	R149G/W175C	< 3
6	F	6 months	7 years	PMR	+	No	Partial	Yes	No	Strabismus	ND	Y114H/G418A	85
9	M	9 months	5 years	PMR	++	Hypotonia	Refractory	Yes	Cerebral atrophy	Strabismus + Nystagmus	ND	R141W/P318L	50
17	M	3 weeks	6 years	Seizure	+++	Hypotonia	Partial	Yes	Cerebral atrophy + hypomyelination	Strabismus + Nystagmus	311	S23R/R426H	3–15

ASD, autism spectrum disorder. CSF, cerebrospinal fluid. CSF values are in nanomoles/L. MRI, magnetic resonance imaging. ND, not done. PMR, psychomotor retardation: +, walking unassisted after 3 years, ++, never acquired standing position and unassisted walking, +++, never acquired sitting position
^*All patients presented poor eye contact; patients 3, 6, and 9 showed stereotypies; patients 2, 3, 6, and 9 had inappropriate laughter; patients 3, and 6 showed self and hetero-aggressiveness

ISSN: 1750-1172