Exploring triheptanoin as treatment for short chain enoyl CoA hydratase deficiency.

We explored the benefits of triheptanoin as a treatment for Short Chain Enoyl Co-A Hydratase (SCEH) deficiency. One child with early onset, severe SCEH Deficiency was treated with triheptanoin, an odd chain oil with anapleurotic properties, for 37 months. Blood and urine chemistry safety measures, motor skills assessment, physical exam, and neurological assessment were monitored over a 27 month period. Modest sustained gains in motor skills, attention, muscle bulk, and strength were observed without any significant adverse effects. Triheptanoin appears to be a promising effective treatment for SCEH Deficiency.

Bone Fractures in Children With Cholestatic Liver Disease May Mimic Those Seen in Child Abuse.

ABSTRACT: Certain fractures in children are highly specific for child abuse. Metabolic bone disease frequently develops in patients with cholestatic liver disease (CLD); this can result in weakened bones and a predisposition to pathologic fractures. Fractures that occur in patients with rickets and osteopenia may mimic a bone response to inflicted injury, which in children raise the concern of child abuse. Here we report a series of 15 patients with CLD who developed pathologic fractures in the setting of metabolic bone disease. During initial evaluation, the caretakers of 5 of these 15 patients were reported to child protective services and investigated for child abuse. Pediatricians should be aware that children with CLD have an increased incidence of pathologic fractures, even after the cholestasis has resolved.

Comparison of Imported European and US Infant Formulas: Labeling, Nutrient and Safety Concerns.

OBJECTIVE: Infant formula in the United States is highly regulated. The American Academy of Pediatrics (AAP) has reported concerns over the use of non-Food and Drug Administration (FDA)-registered imported infant formulas. The purpose of this study is to identify Internet purchased and recommended imported European infant formulas and compare them with FDA labeling and nutrient requirements. STUDY DESIGN: We searched "European infant formulas" in Google and DuckDuckGo to identify vendors of European formulas and blogs discussing these formulas to determine the most frequently purchased and recommended brands. We then compared the identified European formula's label and listed nutrients to FDA labeling and nutrient requirements. RESULTS: Thirteen of 18 vendors responded to our inquiry of their top selling formula and 17 blogs were reviewed. Sixteen formulas were identified. None met all FDA label requirements. Listed nutrients fell within FDA requirements in 15 of 16 formulas. CONCLUSIONS: Non-FDA-registered imported European formulas do not meet all FDA-labeling requirements. Although linoleic acid, which was not listed on all of the European formulas, could not be evaluated, all formulas except one met the remaining FDA nutrient requirements. These European infant formulas are being imported into the United States via third party vendors and are not FDA-regulated, limiting the notable consumer protections set by the FDA that ensure infant formula safety. Pediatric gastroenterologists and healthcare providers need to understand the composition, labelling and lack of FDA regulation and safety concerns of these formulas in order to better counsel parents.

Dietary Inadequacies in HIV-infected and Uninfected School-aged Children in Johannesburg, South Africa.

OBJECTIVES: The World Health Organization recommends that human immunodeficiency virus (HIV)-infected children increase energy intake and maintain a balanced macronutrient distribution for optimal growth and nutrition. Few studies have evaluated dietary intake of HIV-infected children in resource-limited settings. METHODS: We conducted a cross-sectional analysis of the dietary intake of 220 perinatally HIV-infected children and 220 HIV-uninfected controls ages 5 to 9 years in Johannesburg, South Africa. A standardized 24-hour recall questionnaire and software developed specifically for the South African population were used to estimate intake of energy, macronutrients, and micronutrients. Intake was categorized based on recommendations by the World Health Organization and Acceptable Macronutrient Distribution Ranges established by the IOM. RESULTS: The overall mean age was 6.7 years and 51.8% were boys. Total energy intake was higher in HIV-infected than HIV-uninfected children (1341 vs 1196 kcal/day, P = 0.002), but proportions below the recommended energy requirement were similar in the 2 groups (82.5% vs 85.2%, P = 0.45). Overall, 51.8% of the macronutrient energy intake was from carbohydrates, 13.2% from protein, and 30.8% from fat. The HIV-infected group had a higher percentage of their energy intake from carbohydrates and lower percentage from protein compared with the HIV-uninfected group. Intakes of folate, vitamin A, vitamin D, calcium, iodine, and selenium were suboptimal for both groups. CONCLUSIONS: Our findings suggest that the typical diet of HIV-infected children and uninfected children in Johannesburg, South Africa, does not meet energy or micronutrient requirements. There appear to be opportunities for interventions to improve dietary intake for both groups.

Effects of Liver Transplantation on Lipids and Cardiovascular Disease in Children With Homozygous Familial Hypercholesterolemia.

Homozygous familial hypercholesterolemia (HoFH) is a rare, inherited, life-threatening, metabolic disorder of low-density lipoprotein (LDL) receptor function characterized by elevated serum LDL cholesterol (LDL-C) and rapidly progressive atherosclerotic cardiovascular disease (ACVD). Since LDL receptors are predominantly found on hepatocytes, orthotopic liver transplantation (OLT) has emerged as a viable intervention for HoFH because LDL receptor activity is restored. This study assessed the effects of OLT on ACVD and ACVD risk factors in pediatric patients with HoFH. We analyzed lipids, lipoproteins, body mass index, glucose, blood pressure, and cardiovascular imaging in 8 pediatric patients who underwent OLT for HoFH. Total serum cholesterol, LDL-C, lipoprotein (a), and apolipoprotein B/apolipoprotein A1 ratio decreased to normal values in all subjects (p values <0.001) at 1 month after OLT and were maintained for the length of follow-up (2 to 6 years). There were few complications related to surgery or immunosuppressive therapy. Two patients developed mild hypertension. In the first 4 subjects monitored for 4 to 6 years after OLT, coronary artery disease did not develop or progress except in 1 minor artery in 1 subject and actually regressed in 2 subjects with >50% stenosis. However, aortic valve stenosis progressed in 2 of 4 subjects. In conclusion, OLT is an effective therapeutic option for patients with HoFH with coronary artery disease and persistently elevated serum LDL-C despite maximum medical therapy. Aortic valvular disease may progress. Long-term data are needed to evaluate the true risk-benefit ratio of this surgical approach.

Improved tolerance for enteral nutrition after serial transverse enteroplasty (STEP) in infants and children with short bowel syndrome--a seven-year single-center experience.

BACKGROUND: Serial transverse enteroplasty (STEP) was designed to lengthen and taper the small intestine in patients with short bowel syndrome (SBS) and dilated small bowel. We hypothesized that tolerance for enteral nutrition (EN) improves after STEP. METHODS: Patients who underwent STEP between March 2004 and January 2011 were identified. Candidates for STEP had radiographic evidence of dilated small bowel and either failed to advance EN or demonstrated deterioration in tolerance for EN. Clinical and nutritional data were analyzed pre- and post-STEP. EN was defined as the percentage of calories administered enterally. Statistical analysis employed the signed rank test with significance assumed when p<0.05. RESULTS: Twenty STEPs were performed at a median age of 13.7 months. Median pre-STEP bowel length was 30 cm with a median increase in bowel length of 42%. Five patients achieved enteral autonomy at a median of 6.5 months post-STEP. EN increased in 75%, while 25% exhibited unchanged or decreased EN post-STEP. In aggregate, median EN tolerance increased from 22% at one month pre-STEP to 61% at six months post-STEP (p=0.003). CONCLUSIONS: The STEP is an effective adjunct in the treatment of patients with intestinal failure. While enteral autonomy is eventually possible in some patients, improved enteral tolerance can be achieved in a majority of cases.

Reversal of intestinal failure-associated liver disease in infants and children on parenteral nutrition: experience with 93 patients at a referral center for intestinal rehabilitation.

PURPOSE: Intestinal failure (IF)-associated liver disease (IFALD) complicates the treatment of children with IF receiving parenteral nutrition (PN). We hypothesized that prevention or resolution of IFALD was possible in most children and that this would result in improved outcomes. METHODS: We reviewed prospectively gathered data on all children referred to the intestinal rehabilitation and transplantation center at our institution. Total bilirubin level (TB) was used as the marker for IFALD. Patients were grouped based on TB at referral and at subsequent inpatient stays and outpatient visits. Standard treatment consisted of cycling of PN, limiting lipid infusion, enteral stimulation, use of ursodeoxycholic acid, and surgical intervention when necessary. Outcomes such as mortality, dependence on PN, and need for transplantation were assessed. Statistical analyses were performed using Fisher's exact, Mann-Whitney U, and Wilcoxon signed rank tests. RESULTS: Ninety-three patients with intestinal failure and on PN were treated at our center from 2003 to 2009. Median age at referral was 5 months (0.5-264 months). Prematurity was a complicating factor in 63 patients and necrotizing enterocolitis was the most common diagnosis. Eighty-two children had short bowel syndrome, whereas the remaining 11 had extensive motility disorders. 97% of children required significant alteration of their PN administration. At referral, 76 of 93 children had TB 2.0 mg/dL or higher, and 17 had TB below 2.0 mg/dL. TB normalized in 57 of 76 children with elevated TB at referral, and TB remained elevated in 19. Normalization of TB was associated with a mortality of 5.2%, and transplantation was needed in 5.2%. Conversely, when TB remained elevated, mortality was 58% (P = .0002 vs TB normalized), and transplantation occurred in 58% owing to failure of surgical and medical rehabilitation. CONCLUSIONS: Most children referred for treatment of IF have IFALD. A dedicated IF rehabilitation program can reverse IFALD in many children, and this is associated with improved outcome.