Skip to main content

Table 2 Outcomes of included studies

From: Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency: a systematic review

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%)

  1. DD Developmental delay; ERG electroretinography test S symptomatic; SS severe symptomatic
  2. aProgressive subnormal
  3. bNo information on one person
  4. cFurther visual measures are provided in the paper
  5. d1 no ERG
  6. eThe World Health Organization established criteria for low vision using the LogMAR scale. Low vision is defined as a best-corrected visual acuity worse than 0.5 LogMAR but equal or better than 1.3 LogMAR in the better eye. Blindness is defined as a best-corrected visual acuity worse than 1.3 LogMAR in the better eye. Normal defined as above 0.5