Table 2 Unique MCAD deficiency outcomes reported in studies included for data synthesis
Outcome | # (%) of articles TOTAL (n = 52) | # (%) articles pre-2000 (n = 5) | # (%) articles 2000–2009 (n = 17) | # (%) articles after 2009 (n = 30) |
|---|---|---|---|---|
1. CORE AREA: GROWTH AND DEVELOPMENT | 26 (50%) | 4 (80%) | 9 (53%) | 13 (43%) |
 Domain: Physical Growth and Anthropometry | 11 (21%) | 1 (20%) | 1 (6%) | 9 (30%) |
 Body mass index | 2 (4%) | 0 (0%) | 1 (6%) | 1 (3%) |
 Growth | 5 (10%) | 1 (20%) | 0 (0%) | 4 (13%) |
 Head circumference | 2 (4%) | 0 (0%) | 0 (0%) | 2 (7%) |
 Height/length | 4 (8%) | 0 (0%) | 1 (6%) | 3 (10%) |
 Weight10* | 6 (12%) | 0 (0%) | 1 (6%) | 5 (17%) |
 Domain: Cognition and Development | 23 (44%) | 4 (80%) | 8 (47%) | 11 (37%) |
 Cognition and intelligence/IQ2* | 14 (27%) | 2 (40%) | 4 (24%) | 8 (27%) |
 Overall child development2* | 14 (27%) | 3 (60%) | 5 (29%) | 6 (20%) |
 Sensorimotor and motor functioning7* | 7 (13%) | 0 (0%) | 2 (12%) | 5 (17%) |
 Learning difficulties/disabilities | 2 (4%) | 0 (0%) | 2 (12%) | 0 (0%) |
 School function and placement | 5 (10%) | 0 (0%) | 1 (6%) | 4 (13%) |
2. CORE AREA: LIFE IMPACT | 25 (48%) | 3 (60%) | 6 (35%) | 16 (53%) |
 Domain: Child and Caregiver/Family Life Impact | 15 (29%) | 1 (20%) | 3 (18%) | 11 (37%) |
 Child quality of life | 1 (2%) | 0 (0%) | 0 (0%) | 1 (3%) |
 Overall clinician-assessed health status of child10* | 6 (12%) | 1 (20%) | 0 (0%) | 5 (17%) |
 Caregiver/family psychosocial well-being | 2 (4%) | 0 (0%) | 2 (12%) | 0 (0%) |
 Parental experiences with illness care and prevention | 1 (2%) | 0 (0%) | 0 (0%) | 1 (3%) |
 Caregiver/family economic impact | 3 (6%) | 0 (0%) | 1 (6%) | 2 (7%) |
 Physical activity participation and tolerance | 1 (2%) | 0 (0%) | 0 (0%) | 1 (3%) |
 Achievement of treatment goals | 1 (2%) | 0 (0%) | 0 (0%) | 1 (3%) |
 Domain: Child Behaviour, Mental Health, and Temperament | 5 (10%) | 2 (40%) | 0 (0%) | 3 (10%) |
 Behaviour problems and externalizing mental health or behaviour disorders | 4 (8%) | 2 (40%) | 0 (0%) | 2 (7%) |
 Attention-deficit hyperactivity disorder (ADHD) or ADHD-like symptoms | 2 (4%) | 1 (20%) | 0 (0%) | 1 (3%) |
 Internalizing mental health or mood disorders and associated symptoms | 1 (2%) | 0 (0%) | 0 (0%) | 1 (3%) |
 Autism spectrum disorder (ASD) or ASD-like symptoms | 1 (2%) | 0 (0%) | 0 (0%) | 1 (3%) |
 Tic disorder | 1 (2%) | 0 (0%) | 0 (0%) | 1 (3%) |
 Domain: Disease Management and Feeding Behaviour | 15 (29%) | 2 (40%) | 4 (24%) | 9 (30%) |
 Age at treatment initiation | 1 (2%) | 0 (0%) | 1 (6%) | 0 (0%) |
 Possession or use of an emergency card or letter | 1 (2%) | 0 (0%) | 1 (6%) | 0 (0%) |
 Frequency of dietary analysis | 1 (2%) | 0 (0%) | 0 (0%) | 1 (3%) |
 Overall dietary intake relative to standards | 1 (2%) | 0 (0%) | 0 (0%) | 1 (3%) |
 Infant feeding difficulties | 1 (2%) | 0 (0%) | 0 (0%) | 1 (3%) |
 Feeding difficulties | 2 (4%) | 1 (20%) | 0 (0%) | 1 (3%) |
 Use of a feeding tube | 3 (6%) | 0 (0%) | 1 (6%) | 2 (7%) |
 Diet modification | 3 (6%) | 0 (0%) | 1 (6%) | 2 (7%) |
 Fasting | 3 (6%) | 1 (20%) | 0 (0%) | 2 (7%) |
 Fat restriction | 1 (2%) | 0 (0%) | 1 (6%) | 0 (0%) |
 Carnitine supplementation | 5 (10%) | 0 (0%) | 2 (12%) | 3 (10%) |
 Cornstarch supplementation | 2 (4%) | 0 (0%) | 1 (6%) | 1 (3%) |
 Fatty acid supplementation | 1 (2%) | 0 (0%) | 1 (6%) | 0 (0%) |
 Vitamin supplementation | 1 (2%) | 0 (0%) | 0 (0%) | 1 (3%) |
 Prescription or use of medication, supplements, medical foods other than carnitine, cornstarch, or vitamins | 2 (4%) | 0 (0%) | 0 (0%) | 2 (7%) |
 Supplementation with rapidly available carbohydrates during acute illness | 2 (4%) | 0 (0%) | 2 (12%) | 0 (0%) |
 Sick day plan | 2 (4%) | 0 (0%) | 1 (6%) | 1 (3%) |
 Prescription of use of medications or supplements unrelated to MCAD deficiency | 2 (4%) | 1 (20%) | 0 (0%) | 1 (3%) |
 Adherence to prescribed or recommended treatment or management strategy | 2 (4%) | 0 (0%) | 1 (6%) | 1 (3%) |
3. CORE AREA: RESOURCE USE | 18 (35%) | 1 (20%) | 7 (41%) | 10 (33%) |
 Domain: Health Service Use and Costs | 18 (35%) | 1 (20%) | 7 (41%) | 10 (33%) |
 Access to care | 2 (4%) | 0 (0%) | 0 (0%) | 2 (7%) |
 Costs of care | 2 (4%) | 0 (0%) | 1 (6%) | 1 (3%) |
 Emergency department use10* | 6 (12%) | 0 (0%) | 1 (6%) | 5 (17%) |
 Hospitalization2* | 14 (27%) | 1 (20%) | 5 (29%) | 8 (27%) |
 Outpatient care use10* | 6 (12%) | 0 (0%) | 2 (12%) | 4 (13%) |
 Genetic counseling and family cascade carrier testing | 4 (8%) | 0 (0%) | 0 (0%) | 4 (13%) |
 Health education service use | 1 (2%) | 0 (0%) | 0 (0%) | 1 (3%) |
 Provision and coordination of services | 1 (2%) | 0 (0%) | 1 (6%) | 0 (0%) |
4. CORE AREA: DEATH | 24 (46%) | 2 (40%) | 9 (53%) | 13 (43%) |
 Domain: Death | 24 (46%) | 2 (40%) | 9 (53%) | 13 (43%) |
 Death1 | 24 (46%) | 2 (40%) | 9 (53%) | 13 (43%) |
5. CORE AREA: PATHOPHYSIOLOGICAL MANIFESTATIONS | 29 (56%) | 5 (100%) | 9 (53%) | 15 (50%) |
 Domain: Acute Disease-specific Manifestations | 22 (42%) | 3 (60%) | 7 (41%) | 12 (40%) |
 Metabolic decompensation2* | 14 (27%) | 3 (60%) | 4 (24%) | 7 (23%) |
 Encephalopathy10* | 6 (12%) | 1 (20%) | 3 (18%) | 2 (7%) |
 Seizures7* | 7 (13%) | 2 (40%) | 2 (12%) | 3 (10%) |
 Cardiovascular symptoms and disorders | 3 (6%) | 0 (0%) | 1 (6%) | 2 (7%) |
 Respiratory symptoms and disorders | 3 (6%) | 0 (0%) | 1 (6%) | 2 (7%) |
 Muscle symptoms and disorders | 4 (8%) | 0 (0%) | 1 (6%) | 2 (7%) |
 Hypoglycaemia7* | 7 (13%) | 1 (20%) | 3 (18%) | 3 (10%) |
 Hyperammonemia | 2 (4%) | 0 (0%) | 0 (0%) | 2 (7%) |
 Hyperuricemia | 1 (2%) | 0 (0%) | 0 (0%) | 1 (3%) |
 Ketonuria | 2 (4%) | 0 (0%) | 0 (0%) | 2 (7%) |
 Metabolic acidosis | 2 (4%) | 0 (0%) | 0 (0%) | 2 (7%) |
 Psychogenic blindness | 1 (2%) | 1 (20%) | 0 (0%) | 0 (0%) |
 Chronic sequelae of an acute event | 4 (8%) | 3 (60%) | 1 (6%) | 0 (0%) |
 Domain: Non Disease-specific Symptoms and Disorders | 13 (25%) | 3 (60%) | 5 (29%) | 5 (17%) |
 Neurological symptoms and disorders | 1 (2%) | 0 (0%) | 1 (6%) | 0 (0%) |
 Signs of discomfort | 1 (2%) | 0 (0%) | 0 (0%) | 1 (3%) |
 Pallor | 2 (4%) | 0 (0%) | 0 (0%) | 2 (7%) |
 Dehydration | 2 (4%) | 0 (0%) | 0 (0%) | 2 (7%) |
 Acute infections6 | 10 (19%) | 3 (60%) | 4 (24%) | 3 (10%) |
 Body temperature abnormalities | 2 (4%) | 0 (0%) | 1 (6%) | 1 (3%) |
 Gastrointestinal symptoms and disorders | 3 (6%) | 1 (20%) | 1 (6%) | 1 (3%) |
 Hyperglycaemia | 1 (2%) | 0 (0%) | 0 (0%) | 1 (3%) |
 Bronchospasms | 1 (2%) | 0 (0%) | 0 (0%) | 1 (3%) |
 Domain: Biomarkers of Nutritional and Organ-specific Health | 11 (21%) | 1 (20%) | 3 (18%) | 7 (23%) |
 Acylcarnitines | 3 (6%) | 0 (0%) | 3 (18%) | 0 (0%) |
 Free carnitine | 1 (2%) | 0 (0%) | 0 (0%) | 1 (3%) |
 Total carnitine | 5 (10%) | 0 (0%) | 2 (12%) | 3 (10%) |
 Fasting tolerance biomarkers | 1 (2%) | 0 (0%) | 0 (0%) | 1 (3%) |
 Nutritional assessment biomarkers | 5 (10%) | 0 (0%) | 2 (12%) | 3 (10%) |
 Inflammation biomarkers | 1 (2%) | 0 (0%) | 0 (0%) | 1 (3%) |
 Liver health biomarkers | 3 (6%) | 0 (0%) | 1 (6%) | 2 (7%) |
 Kidney health biomarkers | 2 (4%) | 0 (0%) | 0 (0%) | 2 (7%) |
 Muscle health biomarkers | 3 (6%) | 1 (20%) | 1 (6%) | 1 (3%) |
 Neurological health biomarkers | 1 (2%) | 0 (0%) | 0 (0%) | 1 (3%) |
 General health biomarkers | 2 (4%) | 0 (0%) | 0 (0%) | 2 (7%) |