Table 1.

Patient demographics

Patient	Sex	Consanguinity	Relevant family history	Motor and cognitive function	Vital status (age as of 1 June 2022)
1	F	Y	1 sibling (deceased) diagnosed with CP	Bedridden, verbal function: no words	Alive (8 years of age)
2	M	Y	No	Normal motor, speech and cognitive function	Alive (8 years of age)
3	M	Y	No	Bedridden, verbal function: no words	Alive (5 years of age)
4	F	Y	Recurrent, unexplained abortions	Bedridden, verbal function: no words	Alive (6 years of age)
5	M	Y	No	NAe	Alive (4 years of age)
6	M	Y	Recurrent, unexplained abortions. 1 cousin with AADCda; 1 sibling (deceased) and 1 cousin with suspected CP	NAe	Deceased (Age at death: 10 years of age)
7b	M	Y	No	NAe	Deceased (Age at death: 9 years of age)
8c	F	Y	1 sibling (deceased) diagnosed with CP, 1 sibling with similar symptom presentation (AADCd diagnosis not confirmed)	Bedridden, verbal function: no words	Deceased (Age at death: 3 years of age)
9c	F	Y	2 siblings with similar symptom presentation (AADCd diagnosis not confirmed); 1 sibling known to be a carrier	Bedridden, verbal function: no words	Alive (21 years of age as of March 2022)
10c	M	Y	1 cousin with developmental delay (AADCd diagnosis not confirmed)	Bedridden, verbal function: no words	Alive (5 years of age)
11	M	Y	1 sibling with AADCdd	NAe	Alive (7 years of age)
12	F	Y	1 sibling with AADCdd	NAe	Alive (16 years of age)
13	F	Y	No	NAe	Alive (2 years of age)
14	M	Y	No	NAe	Alive (10 months of age)
15	M	Y	No	NAe	Deceased
16	M	Y	1 cousin diagnosed with AADCda	NAe	Deceased

Demographics and characteristics of the 16 patients included in this case series

AADCd aromatic L-amino acid decarboxylase deficiency, CP cerebral palsy, F female, M male, NA not available, Y yes

^aPatient 6 and 16 are cousins 

^bPatient 7 has previously been published in a case report [31] 

^cPatients 8, 9, and 10 have previously been published in a case report [30] 

^dPatients 11 and 12 are siblings 

^eInformation not provided by the author