Table A7.

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD), 11 points.

Condition (4.5 out of 6 Points)				Screening (3 out of 3 Points)				Treatment (3.5 out of 4 Points)
Severity	The disorder only has severe forms	0	AND	Availability	DBS test is available and in use	2	OR	Availability	An EMA-approved treatment is available	0	OR
	There is a rapidly progressing form	0.5			DBS test is not yet available, but is in development with published evidence	0			A treatment intervention is available (diet, HSCT, BMT)	1
	The disorder can be fatal by adolescence	1		Performance	DBS test has a low false-positive rate and/or a high PPV	1	OR		A treatment is in late development (phase 3)	0
Onset	All forms of the disorder are asymptomatic for the first few weeks of life	1	AND		DBS test has a high false-positive rate and/or a low PPV and/or requires additional confirmatory strategies that are available to improve screening performance	0			A treatment is in early development (preclinical, phase 1, or phase 2)	0
	More than 50% of cases are an early-onset phenotype	0						Outcomes	The treatment strategy changes the prognosis for all forms of the disorder	1.5	OR
Frequency	Greater than or equal to 1 in 50,000	2	OR						The treatment strategy changes the prognosis for some forms of the disorder	0
	Greater than or equal to 1 in 100,000 and less than 1 in 50,000	0							The treatment strategy does not change prognosis or improves only some symptoms of the disorder	0
	Greater than or equal to 1 in 150,000 and less than 1 in 100,000	0							Pre-symptomatic initiation results in better outcomes	1	AND
	Between 1 in 250,000 and 1 in 150,000	0