Study | Mortality | Cardiac problems | Liver problems | Other | |
---|---|---|---|---|---|
Immonen 2016 [24] | Asymptomatic screened: 0/1 Symptomatic clinical: 6/15 (40%) Age at death for 5/6 mean 8.5 m. Median 5 m (range 3 m-2y) | Cardiomyopathy at diagnosis Asymptomatic screened: 0/1 S clinical 6/10 (60%) Cardiomyopathy at the end of study period: Asymptomatic screened: 0/1 S clinical 4/10 (40%) | NR | Retinopathy Asymptomatic screened: 0/1 S Clinical: Mild: 7/10 (70%) Moderate: 1/10 (10%) Yes: 1/10 (10%) No: 1/10 (10%) Neuropathy Asymptomatic screened: 0/1 (not detected) S clinical: Mild: 2/9 (22.2%), Moderate: 1/9 (11.1%), None: 2/9 (22.2%), Not detected: 4/9 (44.4%) | |
Sperk 2010 [9] | Asymptomatic screened: 1/3 (33.3%) LCHADD patient, age at death: 3 months Symptomatic screened: 0/3 | Cardiomyopathy Asymptomatic screened: 0/3 Symptomatic screened: 2/3 (66.7%) both cases MTPD | NR | Motor/muscular problems Asymptomatic screened: 0/3 Symptomatic screened: 1/3 (33.3%) MTPD case Hypoglycaemia Asymptomatic screened: 1/3 (33.3%) LCHADD case Symptomatic screened: 3/3 (100%) | |
Karall 2015 [13] | NR | Cardiomyopathy Asymptomatic screened: 1/6 (16.7%), median age 4 months Symptomatic screened: 1/3 (33%), median age 9 months Pre-NBS clinical: 3/3 (100%), median age 23 months (range 3–156 months) FN NBS clinical: 2/2 (100%), median age 4.5 months (range 4–5 months) | Hepatopathy Asymptomatic screened: 1/6 (16.7%), neonatally Symptomatic screened: 0/3 Pre-NBS clinical: 2/3 (66.7%), median age 13 months (range 3–23 months) FN NBS clinical: 2/2 (100%), median age 4.5 months (range 4–5 months) | Retinopathy Asymptomatic screened: 2/6 (33.3%), median age of onset 53 months (range 50–56 months) Symptomatic screened: 1/3 (33.3%), median age of onset 39 months Pre-NBS clinical: 3/3 (100%), median age of onset 24 months (range 23–108 months) FN NBS clinical: 2/2 (100%), median age of onset 40 months (range 38–42 months) Motor/muscular problems Psychomotor developmental normal in all patients | |
Spiekerkoetter 2009 [6] | Screened: 2/10 (20%), both MTPD, age at death median 5.5 days (range 3–8 days) Clinical: 6/17 (35.3%), 3 LCHADD, 3 MTPD; age at death median ~ 2 months (range 2 days – 4 years) | Cardiomyopathy Screened: 4/10 (40%) 1 LCHADD, 3 MTPD Clinical: 8/17 (47%) 7 LCHADD, 1 MTPD Arrhythmias Not reported in screened group. Clinical: 1/17 (5.9%) | Reye syndrome Screened: 3/10 (30%) 1 LCHADD, 2 MTPD Clinical: 6/17 (35.3%) All LCHADD | Retinopathy Screened: NR Clinical: 6/17 (35.3%) 5 LCHADD, 1 MTPD Neuropathy Screened: NR Clinical: 3/17 (17.7%) 2 LCHADD, 1 MTPD Hypotonia/Myopathy Screened: 4/10 (40%) 2 LCHADD, 2 MTPD Clinical: 14/17 (82.4%) 12 LCHADD, 2 MTPD Hypoglycaemia Screened: 4/10 (40%) 3 LCHADD, 1 MTPD Clinical: 15/17 (83.2%) 13 LCHADD, 2 MTPD | |
Boese 2016 [25] | NR | NR | NR | Best corrected visual acuity visit 1 Screened: 4/7 (57.1%) Central Steady and Maintained (CSM) (1 symptomatic case was CMS; 3 LCHADD) Clinical 4/14 (28.6%) CSM Best corrected visual acuity visit 2 Screened: 0/7 CSM Clinical: 2/17 CSM (11.8%) (1 LCHADD, 1 MTPD) Vision visit 1 (calculated by reviewers) Screened: 7/7 (100%) normal Clinical: 14/14 (100%) normal Vision visit 2 (calculated by reviewers)e Screened: 7/7 (100%) normal Clinical: 2/14 impaired (14.3%) > 1 episode of rhabdomyolysis Screened: 6/7 (85.7%) Clinical: 13/13 (100%) Hypoglycaemia All LCHADD clinical cases presented with hypoketotic hypoglycaemia | |
De Biase 2017 [26] | NR | Arrhythmias Asymptomatic screened: 0/1 Symptomatic screened: 0/2 Symptomatic clinical: 1/2 (50%), 1 LCHADD | NR | Retinopathy Asymptomatic screened: 1/1 (100%), 1 LCHADD Symptomatic screened: 1/2 (50%), 1 LCHADD Symptomatic clinical: 2/2 (100%), 2 LCHADD Neural problems Asymptomatic screened: 0/1 Symptomatic screened: 0/2 Symptomatic clinical: 1/2 (50%), 1 LCHADD Myoglobinuria Asymptomatic screened: 0/1 Symptomatic screened: 0/2 Symptomatic clinical: 1/2 (50%), 1 LCHADD Hypoglycaemia at diagnosis Asymptomatic screened: 0/1 Symptomatic screened 2/2 (100%), 1 LCHADD, 1 MTPD Symptomatic clinical: 1/2 (50%), 1 LCHADD | |
Gillingham 2017 [27] | NR | Cardiac complications Asymptomatic screened: 0/7 Symptomatic clinical: 3/5 (60%), all 3 LCHADD | NR | NR | |
Kang 2018 [28] | Asymptomatic screened: 1/1 (100%) Age at death: 49 days Symptomatic clinical: 2/6 (33.3%) Median age at death (range): 6.5 days (4–9 days) | NR | NR | NR | |
Lund 2012 [15] | Asymptomatic: 0/3 Symptomatic clinical: 1/2 (50%) Age at death: 4 months | Cardiomyopathy Asymptomatic screened: 0/3 Symptomatic clinical: 2/2 (100%) | Hepatopathy Asymptomatic screened: 0/3 Symptomatic clinical: 1/2 (50%) | NR | |
Sykut-Cegielska 2011 [29] | Asymptomatic screened: 1/15 (6.7%) Age at death: 7 days Symptomatic clinical: 19/44 (43%) Age at death: Mean 23.95 m; median 6 m (range 4d-10y1m) | NR | NR | NR | |
Swedish Cohort studies | Fahnehjelm 2008 [21] | NR | NR | NR | Visual problems ERG findings Asymptomatic screened: Abnormal: 0/1 Pathological: 0/1 S clinical Abnormal: 2/4 (50%) Pathological: 2/4 (50%) SS clinical: Abnormal: 1/5 (20%)a Pathological: 4/5 (80%) Photophobia Asymptomatic screened: 1/1 (100%) S clinical: 3/4 (75%) SS clinical: 4/4 (100%)b Nyctalopia Asymptomatic screened: 0/1 S clinical: 0/4 SS clinical: 2/4 (50%)c Psychomotor development Asymptomatic screened: Developmental delay (DD): 0/1 Severe DD: 0/1 S clinical: DD: 1/4 (25%) Severe DD: 0/4 SS clinical: DD: 3/5 (60%) Severe DD: 1/5 (20%) Neonatal hypoglycaemia Asymptomatic screened: 0/1 S clinical: 3/4 (75%) SS clinical: 4/5: (80%) |
Fahnehjelm 2016 [22] | NR | NR | NR | Visual problems ERG findings Asymptomatic screened: Subnormal: 1/2d (50%) Pathological: 0/2 S clinical: Subnormal: 2/4 (50%) Pathological: 1/4 (25%) SS clinical: Subnormal: 1/5 (20%) Pathological: 4/5 (80%) Best corrected visual acuity Asymptomatic screened: no/mild visual impairment: 2/2 (100%) Missing data 1/3 (33.3%) S clinical: Moderate impairment: 1/4 (25%) No/mild impairment: 3/4 (75%) SS clinical: Blindness: 1/4 (25%) No/mild impairment: 2/4 (50%) Missing data: 1/5 (20%) Ocular fundi Asymptomatic screened: Normal: 1/3 (33.3%) Subnormal: 2/3 (66.7%) S clinical: Pathological: 4/4 (100%) SS clinical: Pathological 4/5 (80%) Severely pathological 1/5 (20%) Neural problems Epilepsia Asymptomatic screened: 0/3 S clinical: 1/4 (25%) SS clinical: 2/5 (40%) Hypoglycaemia Asymptomatic screened: 1/3 (33.3%) S clinical: 3/4 (75%) SS clinical: 4/5 (80%) | |
Haglind 2013 [23] | NR | NR | NR | Hypoglycaemia Asymptomatic screened: 0/1 S clinical: 3/4 (75%) SS clinical: 4/5: (80%) |