Dataset Information

Dietary Management of Propionic Acidemia: Parent Caregiver Perspectives and Practices.

ABSTRACT: BACKGROUND:Propionic acidemia (PA), an autosomal recessive metabolic disorder, has an estimated incidence of 1:105,000-130,000 in the United States.1,2 Nutrition management is a main intervention for PA. Research in inborn errors of metabolism such as phenylketonuria has identified association of parental perceptions and practices with dietary outcomes. Parental perceptions and practices in the nutrition management of PA have not been investigated. OBJECTIVE:To assess the dietary perceptions and practices of parental caregivers of children affected by PA. METHODS:PA parents were surveyed about perceptions and practices associated with feeding their affected child(ren). The single-page survey was anonymous, and responses to survey items were not identifiable. Parents provided information on how often they followed the prescribed diet and the rationale for any adjustments. RESULTS:Parents "always" or "most of the time" followed the prescribed diet for children 4-20 years of age; yet, open-ended responses indicated that 71.4% made situational adjustments to their child's diet for a variety of reasons, including illness, iatrogenic effects, and social events. CONCLUSIONS:PA parents make situational adjustments to their child's highly specialized diet. Uncertainty exists as to the situational adjustments being within the guidelines used by the metabolic healthcare team who rely on parents to inform them about dietary situational adjustments.

SUBMITTER: Lea D

PROVIDER: S-EPMC6395508 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature

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Dietary Management of Propionic Acidemia: Parent Caregiver Perspectives and Practices.

Lea Dawn D Shchelochkov Oleg O Cleary Jennifer J Koehly Laura M LM

JPEN. Journal of parenteral and enteral nutrition 20181024 3

<h4>Background</h4>Propionic acidemia (PA), an autosomal recessive metabolic disorder, has an estimated incidence of 1:105,000-130,000 in the United States.<sup>1,2</sup> Nutrition management is a main intervention for PA. Research in inborn errors of metabolism such as phenylketonuria has identified association of parental perceptions and practices with dietary outcomes. Parental perceptions and practices in the nutrition management of PA have not been investigated.<h4>Objective</h4>To assess t ...[more]

PMID: 30357861

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Project description:Propionic acidemia is a rare metabolic disorder caused by a deficiency of propionyl- CoA carboxylase, the enzyme converting propionyl-CoA to methylmalonyl-CoA that subsequently enters the citric acid cycle as succinyl-CoA. Patients with propionic acidemia cannot metabolize propionic acid, which combines with oxaloacetate to form methylcitric acid. This, with the defective supply of succinyl-CoA, may lead to a deficiency in citric acid cycle intermediates.The objective of this study was to determine whether supplements with glutamine (400mg/kg per day), citrate (7.5mEq/kg per day), or ornithine ?-ketoglutarate (400mg/kg per day) (anaplerotic agents that could fill up the citric acid cycle) would affect plasma levels of glutamine and ammonia, the urinary excretion of Krebs cycle intermediates, and the clinical outcome in 3 patients with propionic acidemia.Each supplement was administered daily for four weeks with a two week washout period between supplements. The supplement that produced the most favorable changes was supplemented for 30 weeks following the initial study period and then for a 2 year extension.The urinary excretion of the Krebs cycle intermediates, ?-ketoglutarate, succinate, and fumarate increased significantly compared to baseline during citrate supplementation, but not with the other two supplements. For this reason, citrate supplements were continued in the second part of the study. The urinary excretion of methylcitric acid and 3-hydroxypropionic acid did not change with any intervention. No significant changes in ammonia or glutamine levels were observed with any supplement. However, supplementation with any anaplerotic agents normalized the physiological buffering of ammonia by glutamate, with plasma glutamate and alanine levels significantly increasing, rather than decreasing with increasing ammonia levels. No significant side effects were observed with any therapy and safety labs (blood counts, chemistry and thyroid profile) remained unchanged. Motor and cognitive development was severely delayed before the trial and did not change significantly with therapy. Hospitalizations per year did not change during the trial period, but decreased significantly (p<0.05) in the 2years following the study (when citrate was continued) compared to the 2years before and during the study.These results indicate that citrate entered the Krebs cycle providing successful anaplerotic therapy by increasing levels of the downstream intermediates of the Krebs cycle: ?-ketoglutarate, succinate and fumarate. Citrate supplements were safe and might have contributed to reduce hospitalizations in patients with propionic acidemia.

Dataset Information

Dietary Management of Propionic Acidemia: Parent Caregiver Perspectives and Practices.

Publications

Dietary Management of Propionic Acidemia: Parent Caregiver Perspectives and Practices.

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