Introduction: Branched-chain organic acidurias include maple syrup urine disease (MSUD), isovaleric acidemia (IVA), propionic acidemia (PA), and methylmalonic acidemia (MMA). Long term management requires diets of adequate energy and protein with restriction of the offending amino acids. Standard commercial formulas are expensive and unaffordable to patients of low socio-economic status. Methods: This study aimed to develop food products for branched-chain organic acidurias children aged 4-15 years using locally available raw materials in Thailand. Fish maw (Pangasius hypophthalmus) and roasted sunflower kernel (Helianthus annuus) were selected as protein sources due to their low leucine contents. Five formulations were developed, namely (i) powder (low leucine, isoleucine, and valine for MSUD) for tube feeding preparation, (ii) – (v) rice sprinkle powder, bouillon cube, instant cocoa drink, and snack bar, respectively with low leucine for IVA; low valine, isoleucine, methionine and threonine for PA and MMA. Results: All five formulated products provide 500-600 kcal/100 g, adequate protein in which the offending amino acids were controlled at non-harmful levels. These products were shelf stable at room temperature (Aw = 0.3-0.5). Conclusion: The products that were formulated from fish maw and roasted sunflower kernel provide proteins of appropriate quality and quantity for long-term management of branched-chain organic acidurias. The developed products should be further tested for efficacy among patients in accordance with an adequately powered study design.

Purpose: Pediatric acute liver failure (PALF) is a serious condition; however, data on PALF in developing countries are sparse, particularly concerning molecular diagnosis and liver transplantation (LT). This study aimed to determine the causes, outcomes, and prognostic factors of PALF. Methods: We retrospectively reviewed the medical records of children (age <15 years) with PALF diagnosed using the American Association for the Study of Liver Diseases criteria at our center from 2011 to 2016. The collected data included laboratory results, complications, outcomes, and potential factors associated with death and LT. Results: We included a total of 27 patients, with a median age of 2 years (interquartile range, 3 months to 4 years). Viral infection was the most common etiology (n=8, 30%), predominantly dengue infection (n=4). A total of 16 patients (59%) died and 11 patients survived (3 patients with LT). The prognostic factors associated with death or LT requirement were grade IV hepatic encephalopathy (p<0.01), hypotension (p=0.02), gastrointestinal bleeding (p=0.03), increased intracranial pressure (p=0.04), and higher peak serum lactate level (p=0.01). Peak serum lactate ≥6 mmoL/L had a sensitivity of 79% and a specificity of 88% for predicting mortality or the necessity of LT. Conclusion Viral infection was the most common cause of PALF. The mortality rate remained high, and a considerable number of patients required LT. In addition to several clinical factors, peak serum lactate could be a potential marker for predicting poor outcomes in PALF.

Introduction: Modular diets (MDs) with low amount of offending amino acids have been developed using locally available food ingredients as alternatives to commercial formulas for the treatment of branched-chain organic acidurias (BCOAs). Herein, we conducted a clinical investigation of MDs in patients with BCOAs. Methods: Modular diet A (MDA), with low leucine was produced for maple syrup urine disease (MSUD), and modular diet B (MDB) products, MDB-1, -2, -3, and -4, with low leucine, valine, methionine and threonine were made for isovaleric aciduria (IVA)/methylmalonic aciduria (MMA)/propionic aciduria (PA). Children aged 4-18 years, with MSUD, IVA, PA or MMA were invited to participate in the study. The research subjects switched from metabolic formula protocol to modular diet protocol. They were followed-up at 0, 1, 2, 4, and 6 months. Clinical efficacies of MDs were determined by completion of study, compliance to MDs, clinical outcomes and complications, and parental satisfaction. Results: Six children (2 MSUD and 4 IVA) participated and completed the study. Compliance to MDA was 100% in MSUD subjects with G-tube feeding, while compliance to MDB varied among self-fed individuals with IVA. One subject with MSUD was clinically stable throughout the study, while the other experienced metabolic instability. All IVA individuals showed clinical and laboratory stability during the study. One MSUD and three IVA families preferred the metabolic formula, whereas the other IVA family reported no preference and the other MSUD subject preferred MDs. Conclusion: We provided a proof of concept in developing modular diets for BCOAs, and showed favourable outcomes when using MDs in IVA and varying clinical benefits in MSUD.