Earlier diagnosis and strict diets improve the survival rate and clinical course of long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency

Abstract

Earlier diagnosis and stricter dietary regimes improved the survival rates and clinical course of patients with LCHADD in Finland. However, improvements in therapy are still needed to prevent the development of long-term complications, such as retinopathy and neuropathy.

Fatal COVID‐19 infection in a patient with long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency: A case report

“…Physiologic stress, including illness, and inappropriate diet cause acute metabolic decompensation and may lead to death 18 . Dietary treatment with long chain fatty acid restriction and medium chain triglyceride (MCT) supplementation are the mainstays of LCHADD treatment and prevention of complications 19 …”

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

“…All children also received DHA.Compliance of treatment is not reported.Fahnehjelm 2016 [22]Cohort study. Prospective and retrospective data collectionAverage follow up time: median 15 years (range 3–26 years).Time period/study duration: Not reportedPatients diagnosed between 1990 to using the same treatment guidelinesStudy setting: Karolinska University Hospital and Uppsala University Hospital, SwedenNumber of centres: 2 n = 12, 12/12 LCHADD.Asymptomatic screened n = 3 (2 by NBS, 1 unspecified).Age of diagnosis/treatment: First days of lifeClinical presentation with symptoms: n = 9Clinical symptoms (S) but no acute illness: n = 4Severe symptoms (SS) (elevated liver enzymes and cardiomyopathy and /or seizures): n = 5Age of diagnosis/treatment:0-1 m ( n = 1), 1-6 m ( n = 2), > 6 m ( n = 6)All patients received a dietary treatment of low fat intake and essential fatty acid supplementation.11/12 had DHA.8/12 continuous night feeds.Dietary compliance:Asymptomatic screened: all acceptableS clinical:1/4 (25%) poor, 3/4 (75%) acceptableSS clinical:3/5 (60%) poor, 2/5 (40%) acceptableHaglind 2013 [23]Cohort study, retrospective data collection of medical reviewsTime period/study duration: Not reportedPatients aged up to 20 yearsStudy setting: Karolinska University Hospital and Uppsala University Hospital, SwedenNumber of centres: 2 n = 10, 10/10 LCHADD.Asymptomatic screened: n = 1 (cascade testing).Age of diagnosis/treatment: 2 daysClinical presentation with symptoms: n = 9Clinical symptoms (S) but no acute illness: n = 4Severe symptoms (SS) (elevated liver enzymes and cardiomyopathy and / or seizures): n = 5Age of diagnosis/treatment:mean 6.1 months (up to 13 m)8/10 received DHA.9/10 had a PEG with continuous night feeds.9/10 received MCT fat, vitamins, minerals, and trace elements.Fasting limited to 3–4 h.2/10 uncooked corn starch.1 had carnitine deficiency so given carnitine supplements of 25-50 mg/kg/day.Did not record compliance.Immonen 2016 [24]Prospective cohort (followed prospectively but using diagnosis data from retrospectively collected hospital records). Comparison with historical cohort (24/28 diagnosed post mortem)Follow-up time (age of patients at the end of the study): 1–11 yearsTime period: 1997–2010Study setting: Hospitals in FinlandNumber of centres: NR n = 16, 16/16 LCHADD.Asymptomatic screened: n = 1 (cascade testing)Age at treatment: BirthSymptomatic clinical: n = 15Age at presentation:Birth to 0.42 years (~ 5 months).…”

“…Seven of the eleven included studies were retrospective cohort studies [6, 9, 13, 25, 26, 28, 29]. Three studies (reported in five papers) were prospective studies [15, 21–24] and one was a randomised controlled trial (RCT) for a drug treatment which has been analysed as a cohort study in this review [27]. The shortest study duration was three years [9] and the longest period of follow up was up to 17 years [29].…”

“…Triheptanoin) supplements varied across studies and across patients within studies. Five papers (reporting on three patient groups) reported on dietary compliance [21–24, 26].…”

“…2 and Additional file 4. Overall, the methodological quality was judged as weak in seven studies (8 papers), with two or more domains receiving a weak rating [6, 9, 21, 22, 24, 26, 27, 29]. The five remaining studies were rated as moderate, with one domain receiving a weak rating [13, 15, 23, 25, 28].…”