{'fraction_non_alphanumeric': 0.04102891156462585, 'fraction_numerical': 0.025297619047619048, 'mean_word_length': 5.190789473684211, 'pattern_counts': {'":': 0, '<': 0, '<?xml version=': 0, '>': 1, 'https://': 0, 'lorem ipsum': 0, 'www.': 0, 'xml': 0}, 'pii_count': 1, 'substrings_counts': 0, 'word_list_counts': {'cursed_substrings.json': 0, 'profanity_word_list.json': 0, 'sexual_word_list.json': 0, 'zh_pornsignals.json': 0}}
Serial fatty acid profiles in a preterm infant with long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency

Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency is a rare disorder of fatty acid oxidation; untreated, it results in early onset cardiomyopathy, hypoglycemia and neuropathy. Early dietary management is important for longterm health in children with LCHAD deficiency, although any such approach must address the need for essential long-chain polyunsaturated fatty acids (LCPUFA), especially docosahexaenoic acid (DHA) and arachidonic acid (AA), particularly in preterm infants. Here, we describe the case of a preterm infant with LCHAD deficiency diagnosed on neonatal screening test (NST), in which the fatty acid profiles were measured over time after birth. The patient was delivered by cesarean section at 29 weeks’ gestational age (birthweight, 900 g) because of fulminant hypertension, elevated liver enzymes, and low platelets (HELLP) syndrome in the mother. Corticosteroids and magnesium sulfate were given antenatally. The patient was admitted to the neonatal intensive care unit of the Women’s and Children’s Hospital, Adelaide. Nasal continuous positive airway pressure was initiated after surfactant treatment due to respiratory distress syndrome, with respiratory support continuing until 15 days of age. Total parenteral nutrition including protein, glucose and SMOFlipid (SMOFlipid Fresenius Kabi, Uppsala, Sweden; 37.2% linoleic acid, 1% AA, 4.7% a-linolenic acid, 4.7% eicosapentaenoic acid, 4.4% DHA) commenced from day 1 and breast milk commenced from day 4 of age. On day 2 of age, routine NST suggested a disorder of fatty acid oxidation. On gene analysis the subject was homozygous for the common p.Glu510Gln variant in HADHA (LCHAD asubunit gene). From these findings, a diagnosis of LCHAD deficiency was established. Formula (Monogen , Nutricia, Trowbridge, Wiltshire, UK) containing medium-chain triglycerides (MCT) oil and low in LCPUFA was substituted for breast milk from day 7; SMOF lipid (SMOFlipid Fresenius Kabi) and total parenteral nutrition were ceased at day 9 and 11, respectively. Laboratory data did not indicate hypoglycemia or metabolic acidosis. Echocardiogram at 14 days of age showed normal left ventricular function. No clinical arrhythmias were observed on continuous monitoring. He was discharged at 2 months of age on Monogen (Nutricia) with bodyweight 2,750 g. The infant had normal development milestones and growth at 12 months’ postconceptual age. Prior to the diagnosis of LCHAD, the infant had been enrolled in a prospective study of LCPUFA levels in preterm infants. The study had been approved by the Research Ethics Committee of the Women’s and children’ Hospital and parental informed consent had been obtained. Fatty acid profiles of cord blood and heel prick blood samples taken on days 4, 7, 14, 28 and 56 were analyzed using the dried blood spot method. Fatty acid profiles indicated a marked decrease in DHA and AA after SMOFlipid (SMOFlipid Fresenius Kabi) was ceased and Monogen (Nutricia) commenced. Concentrations of essential fatty acids, linoleic acid (18:2n-6) and a-linolenic acid (18:3n-3), were normal through the study period (Fig. 1). Monogen (Nutricia) has only 10.1 mg/100 mL DHA and also AA. In contrast, SMOFlipid (SMOFlipid Fresenius Kabi) contains approximately 410 mg/100 mL DHA and 94 mg/100 mL AA. Preterm infants are at risk of DHA deficiency because of missing the accumulation of DHA in the third trimester. The intrauterine accretion rate of DHA during the third trimester is approximately 43 mg/kg/day, whereas that of AA is 212 mg/kg/day. Based on these rates of accretion, Monogen (Nutricia) contains insufficient DHA and AA, in addition to protein, calcium and phosphorus for the nutritional requirements of the preterm infant. DHA has important roles in brain and visual development. Collins et al. showed that DHA supplementation (40–120 mg/kg/day) can prevent the decrease of DHA in preterm infants soon after delivery. In the present case, >40 mg DHA supplementation might have been necessary after SMOFlipid (SMOFlipid Fresenius Kabi) was ceased and Monogen (Nutricia) commenced. When supplementing with DHA, however, monitoring is needed to avoid the accumulation of toxic metabolites that can lead to accumulation of long-chain 3-hydroxyacyl-CoA substrates in several organs. Correspondence: Chad C Andersen, MBBS FRACP, Department of Neonatal Medicine, Women’s and Children’s Hospital, 72 King William Road, North Adelaide, SA 5006, Australia. Email: chad.andersen@sa.gov.au Received 14 September 2018; revised 17 December 2018; accepted 7 February 2019. doi: 10.1111/ped.13802