Table 5.

Scoring results for medium-chain acyl CoA dehydrogenase deficiency.

Disease/Condition
Categories	Subcategories	Criteria	Rating Score	Full Marks
Disease/condition	Incidence of the disease/condition	≥1/100,000 but <1/50,000	5	10
	Onset of serious symptoms within 96 h of birth	≥1% but <30%	7	9
	Natural history of the disease/condition	Clear	18	18
	Disease burden without treatment	High disease burden	37	37
Subtotal			67	74
Screening test	Screening test performance	High sensitivity and specificity	32	32
	Availability of dried blood specimens	Yes	29	29
	Number of samples that can be processed	≥200 samples/day/full-time equivalent (FTE)	16	16
	Time to obtain screening test results	<1 day	17	17
	Cost of screening test	1000–4999 JPY	4	12
	Number of diseases/conditions testable at once	≥4	16	16
Subtotal			114	122
Intervention	Availability of clinical guidelines	Available	39	39
	Availability of medical interventions covered by national health insurance	Available	41	41
	Scientific evidence for the benefits of early intervention	Yes	104	104
Subtotal			184	184
Follow-up setting	Post-screening follow-up system	Well established	66	66
	Availability of post-screening consultation	Available	60	60
Subtotal			126	126
Economic evaluation		Scientific evidence is available	114	114
Total score			605	620

The results of applying the developed scoring model to medium-chain acyl CoA dehydrogenase (MCAD) deficiency are shown. The rating score represents the score assigned to the selected criteria for the MCAD deficiency. Deviations from the full marks indicate scores that MCAD deficiency did not obtain.