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Table 2 Unique MCAD deficiency outcomes reported in studies included for data synthesis

From: Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review

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 DEVELOPMENT26 (50%)4 (80%)9 (53%)13 (43%)
 Domain: Physical Growth and Anthropometry11 (21%)1 (20%)1 (6%)9 (30%)
 Body mass index2 (4%)0 (0%)1 (6%)1 (3%)
 Growth5 (10%)1 (20%)0 (0%)4 (13%)
 Head circumference2 (4%)0 (0%)0 (0%)2 (7%)
 Height/length4 (8%)0 (0%)1 (6%)3 (10%)
 Weight10*6 (12%)0 (0%)1 (6%)5 (17%)
 Domain: Cognition and Development23 (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/disabilities2 (4%)0 (0%)2 (12%)0 (0%)
 School function and placement5 (10%)0 (0%)1 (6%)4 (13%)
2. CORE AREA: LIFE IMPACT25 (48%)3 (60%)6 (35%)16 (53%)
 Domain: Child and Caregiver/Family Life Impact15 (29%)1 (20%)3 (18%)11 (37%)
 Child quality of life1 (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-being2 (4%)0 (0%)2 (12%)0 (0%)
 Parental experiences with illness care and prevention1 (2%)0 (0%)0 (0%)1 (3%)
 Caregiver/family economic impact3 (6%)0 (0%)1 (6%)2 (7%)
 Physical activity participation and tolerance1 (2%)0 (0%)0 (0%)1 (3%)
 Achievement of treatment goals1 (2%)0 (0%)0 (0%)1 (3%)
 Domain: Child Behaviour, Mental Health, and Temperament5 (10%)2 (40%)0 (0%)3 (10%)
 Behaviour problems and externalizing mental health or behaviour disorders4 (8%)2 (40%)0 (0%)2 (7%)
 Attention-deficit hyperactivity disorder (ADHD) or ADHD-like symptoms2 (4%)1 (20%)0 (0%)1 (3%)
 Internalizing mental health or mood disorders and associated symptoms1 (2%)0 (0%)0 (0%)1 (3%)
 Autism spectrum disorder (ASD) or ASD-like symptoms1 (2%)0 (0%)0 (0%)1 (3%)
 Tic disorder1 (2%)0 (0%)0 (0%)1 (3%)
 Domain: Disease Management and Feeding Behaviour15 (29%)2 (40%)4 (24%)9 (30%)
 Age at treatment initiation1 (2%)0 (0%)1 (6%)0 (0%)
 Possession or use of an emergency card or letter1 (2%)0 (0%)1 (6%)0 (0%)
 Frequency of dietary analysis1 (2%)0 (0%)0 (0%)1 (3%)
 Overall dietary intake relative to standards1 (2%)0 (0%)0 (0%)1 (3%)
 Infant feeding difficulties1 (2%)0 (0%)0 (0%)1 (3%)
 Feeding difficulties2 (4%)1 (20%)0 (0%)1 (3%)
 Use of a feeding tube3 (6%)0 (0%)1 (6%)2 (7%)
 Diet modification3 (6%)0 (0%)1 (6%)2 (7%)
 Fasting3 (6%)1 (20%)0 (0%)2 (7%)
 Fat restriction1 (2%)0 (0%)1 (6%)0 (0%)
 Carnitine supplementation5 (10%)0 (0%)2 (12%)3 (10%)
 Cornstarch supplementation2 (4%)0 (0%)1 (6%)1 (3%)
 Fatty acid supplementation1 (2%)0 (0%)1 (6%)0 (0%)
 Vitamin supplementation1 (2%)0 (0%)0 (0%)1 (3%)
 Prescription or use of medication, supplements, medical foods other than carnitine, cornstarch, or vitamins2 (4%)0 (0%)0 (0%)2 (7%)
 Supplementation with rapidly available carbohydrates during acute illness2 (4%)0 (0%)2 (12%)0 (0%)
 Sick day plan2 (4%)0 (0%)1 (6%)1 (3%)
 Prescription of use of medications or supplements unrelated to MCAD deficiency2 (4%)1 (20%)0 (0%)1 (3%)
 Adherence to prescribed or recommended treatment or management strategy2 (4%)0 (0%)1 (6%)1 (3%)
3. CORE AREA: RESOURCE USE18 (35%)1 (20%)7 (41%)10 (33%)
 Domain: Health Service Use and Costs18 (35%)1 (20%)7 (41%)10 (33%)
 Access to care2 (4%)0 (0%)0 (0%)2 (7%)
 Costs of care2 (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 testing4 (8%)0 (0%)0 (0%)4 (13%)
 Health education service use1 (2%)0 (0%)0 (0%)1 (3%)
 Provision and coordination of services1 (2%)0 (0%)1 (6%)0 (0%)
4. CORE AREA: DEATH24 (46%)2 (40%)9 (53%)13 (43%)
 Domain: Death24 (46%)2 (40%)9 (53%)13 (43%)
 Death124 (46%)2 (40%)9 (53%)13 (43%)
5. CORE AREA: PATHOPHYSIOLOGICAL MANIFESTATIONS29 (56%)5 (100%)9 (53%)15 (50%)
 Domain: Acute Disease-specific Manifestations22 (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 disorders3 (6%)0 (0%)1 (6%)2 (7%)
 Respiratory symptoms and disorders3 (6%)0 (0%)1 (6%)2 (7%)
 Muscle symptoms and disorders4 (8%)0 (0%)1 (6%)2 (7%)
 Hypoglycaemia7*7 (13%)1 (20%)3 (18%)3 (10%)
 Hyperammonemia2 (4%)0 (0%)0 (0%)2 (7%)
 Hyperuricemia1 (2%)0 (0%)0 (0%)1 (3%)
 Ketonuria2 (4%)0 (0%)0 (0%)2 (7%)
 Metabolic acidosis2 (4%)0 (0%)0 (0%)2 (7%)
 Psychogenic blindness1 (2%)1 (20%)0 (0%)0 (0%)
 Chronic sequelae of an acute event4 (8%)3 (60%)1 (6%)0 (0%)
 Domain: Non Disease-specific Symptoms and Disorders13 (25%)3 (60%)5 (29%)5 (17%)
 Neurological symptoms and disorders1 (2%)0 (0%)1 (6%)0 (0%)
 Signs of discomfort1 (2%)0 (0%)0 (0%)1 (3%)
 Pallor2 (4%)0 (0%)0 (0%)2 (7%)
 Dehydration2 (4%)0 (0%)0 (0%)2 (7%)
 Acute infections610 (19%)3 (60%)4 (24%)3 (10%)
 Body temperature abnormalities2 (4%)0 (0%)1 (6%)1 (3%)
 Gastrointestinal symptoms and disorders3 (6%)1 (20%)1 (6%)1 (3%)
 Hyperglycaemia1 (2%)0 (0%)0 (0%)1 (3%)
 Bronchospasms1 (2%)0 (0%)0 (0%)1 (3%)
 Domain: Biomarkers of Nutritional and Organ-specific Health11 (21%)1 (20%)3 (18%)7 (23%)
 Acylcarnitines3 (6%)0 (0%)3 (18%)0 (0%)
 Free carnitine1 (2%)0 (0%)0 (0%)1 (3%)
 Total carnitine5 (10%)0 (0%)2 (12%)3 (10%)
 Fasting tolerance biomarkers1 (2%)0 (0%)0 (0%)1 (3%)
 Nutritional assessment biomarkers5 (10%)0 (0%)2 (12%)3 (10%)
 Inflammation biomarkers1 (2%)0 (0%)0 (0%)1 (3%)
 Liver health biomarkers3 (6%)0 (0%)1 (6%)2 (7%)
 Kidney health biomarkers2 (4%)0 (0%)0 (0%)2 (7%)
 Muscle health biomarkers3 (6%)1 (20%)1 (6%)1 (3%)
 Neurological health biomarkers1 (2%)0 (0%)0 (0%)1 (3%)
 General health biomarkers2 (4%)0 (0%)0 (0%)2 (7%)
  1. 1–10indicates top ten most reported or discussed unique outcomes, ties indicated with an asterisks
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