Social and medical needs of rare metabolic patients: results from a MetabERN survey

Table 1 Characteristics of the survey respondents

Question and answer options	%
Type of respondent
Parent of the patient	60.3
Patient	31.0
Caregiver/relative of the patient	8.7
Sex of respondent
Female	64.3
Male	35.7
Age of patient
Under 18	51.4
Over 18	48.6
Rare metabolic disorder affecting the patient
AOA	35.4
LSD	28.7
C-FAO	10.9
Not metabolic	8.1
CDG	5.0
NOMS	1.7
PM-MD	1.6
PD	0
No answer	5.4
Undefined	1.6
Uncertain	1.5
Country of the respondent
Spain	17.7
Italy	17.2
Germany	15.4
France	9.8
Norway	8.3
Denmark	5.0
Slovakia	4.3
No answer	4.2
Ireland	3.0
Netherlands	2.6
Greece	2.1
Poland	1.9
United Kingdom	1.7
Belgium	1.5
Portugal	1.0
Sweden	1.0
Austria	0.9
Other Europe	1.4
Extra Europe	0.9

AOA: Amino and organic acids-related disorders; PM-MD: disorder of pyruvate metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism; C-FAO: carbohydrate, fatty acid oxidation and ketone bodies disorders; LSD: lysosomal storage disorders; PD: peroxisomal disorders; CDG: congenital disorders of glycosylation and disorders of intracellular trafficking; NOMS: disorders of neuromodulators and other small molecules

ISSN: 1750-1172