Disorders of Amino Acid Metabolism, Organic Acidaemias and Urea Cycle Defects

Dixon, Marjorie

doi:10.1002/9780470690369.ch15

Cited by 8 publications

(20 citation statements)

References 111 publications

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“…Combined the feeds should provide the normal requirement for all nutrients. Normal weaning practices can be followed by first introducing fruits and very low protein vegetables [106] then gradually replacing gram by gram of protein from breast milk/infant formula with protein-containing foods. Parents need careful training and close supervision in calculating the protein content of food, to allow this changeover from feeds to food.…”

Section: Long-term Management Of Ucdsmentioning

confidence: 99%

Suggested guidelines for the diagnosis and management of urea cycle disorders

Häberle

Boddaert

Burlina

et al. 2012

Orphanet J Rare Dis

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522

623

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Urea cycle disorders (UCDs) are inborn errors of ammonia detoxification/arginine synthesis due to defects affecting the catalysts of the Krebs-Henseleit cycle (five core enzymes, one activating enzyme and one mitochondrial ornithine/citrulline antiporter) with an estimated incidence of 1:8.000. Patients present with hyperammonemia either shortly after birth (~50%) or, later at any age, leading to death or to severe neurological handicap in many survivors. Despite the existence of effective therapy with alternative pathway therapy and liver transplantation, outcomes remain poor. This may be related to underrecognition and delayed diagnosis due to the nonspecific clinical presentation and insufficient awareness of health care professionals because of disease rarity. These guidelines aim at providing a trans-European consensus to: guide practitioners, set standards of care and help awareness campaigns. To achieve these goals, the guidelines were developed using a Delphi methodology, by having professionals on UCDs across seven European countries to gather all the existing evidence, score it according to the SIGN evidence level system and draw a series of statements supported by an associated level of evidence. The guidelines were revised by external specialist consultants, unrelated authorities in the field of UCDs and practicing pediatricians in training. Although the evidence degree did hardly ever exceed level C (evidence from non-analytical studies like case reports and series), it was sufficient to guide practice on both acute and chronic presentations, address diagnosis, management, monitoring, outcomes, and psychosocial and ethical issues. Also, it identified knowledge voids that must be filled by future research. We believe these guidelines will help to: harmonise practice, set common standards and spread good practices with a positive impact on the outcomes of UCD patients.

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Section: Long-term Management Of Ucdsmentioning

confidence: 99%

Suggested guidelines for the diagnosis and management of urea cycle disorders

Häberle

Boddaert

Burlina

et al. 2012

Orphanet J Rare Dis

Self Cite

522

623

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Section: Discussionmentioning

confidence: 99%

“…Several studies recognise that the management of these disorders can be complicated and should always involve a metabolic team including an experienced metabolic dietitian. 9,[13][14][15]18,29 Indeed, Acosta and Singh highlight the significance of metabolic dietitians' role in ascertaining nutrient requirements, calculating compositions of formula, and provision of specialised prescriptive diets. 14,18 It is recognised that metabolic emergencies are one area of health care where therapeutic strategies fall short from an evidence-base because of lack of high quality research, in particular, a lack of evidence in the management of adults in acute hospital settings.…”

Section: Discussionmentioning

confidence: 99%

Nutrition process improvements for adult inpatients with inborn errors of metabolism using the i‐PARIHS framework

Williams

Meij

Nisbet

et al. 2019

Nutrition & Dietetics

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Aim This project aimed to implement consensus recommendations and innovations that improve dietetic services to promote timely referral to optimise nutritional management for adult inpatients with inborn errors of metabolism (IEM). Methods The i‐PARIHS framework was used to identify service gaps, implement innovations and evaluate the innovations within this single‐site study. The constructs of this framework are: (i) review of the evidence; (ii) recognising patients and staff knowledge and attitudes; (iii) acknowledging the local context; and (iv) the facilitators role. This included a literature review and metabolic centre service comparisons to investigate dietetic referral and foodservice processes to inform the innovation. A 12‐month chart audit (6 months retrospective and prospective of implemented innovation, respectively) to evaluate newly established dietetic referral and IEM nutrition provision procedures was also completed. Results The innovations implemented encompassed a clinical alert triggering urgent referral, nutrition sick day plans and metabolic diet and formula prescription via an ‘alert’ tab in electronic records. Eleven metabolic protein‐restricted diets and nine formula recipes were introduced. Prior to the innovations, only 53% (n = 19/36) of inpatients with IEM were assessed by the dietitian and received appropriate nutrition within 24 hours. Following implementation of the innovations, 100% (n = 11/11) of inpatients with IEM received timely dietetic assessment and therapeutic nutrition. Conclusions Implementation of innovations developed using the i‐PARIHS framework is effective in timely notification of the metabolic dietitian of referrals. This ensures optimal nutritional management during admissions which is required in this group of high‐risk patients.

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“…Enteral feeding should be started as soon as possible on the basis of a low protein diet [25,42]. Breast milk can be given in limited amounts (up to about 0.7 g protein/kg body weight/d) but the protein tolerance depends on the severity of the defect and is highly variable between patients [43].…”

Section: Management Of Primary Hyperammonemiamentioning

confidence: 99%

Clinical practice

Häberle

2010

Eur J Pediatr

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Hyperammonemia is a life-threatening condition which can affect patients at any age. Elevations of ammonia in plasma indicate its increased production and/or decreased detoxification. The hepatic urea cycle is the main pathway to detoxify ammonia; it can be defective due to an inherited enzyme deficiency or secondary to accumulated toxic metabolites or substrate depletion. Clinical signs and symptoms in hyperammonemia are unspecific but they are mostly neurological. Thus, in any unexplained change in consciousness or in any unexplained encephalopathy, hyperammonemia must be excluded as fast as possible. Any delay in recognition and start of treatment of hyperammonemia may have deleterious consequences for the patient. Treatment largely depends on the underlying cause but is, at least in pediatric patients, mainly aimed at establishing anabolism to avoid endogenous protein breakdown and amino acid imbalances. In addition, pharmacological treatment options exist to improve urea cycle function or to remove nitrogen, but their use depend on the underlying disorder. To improve the prognosis of acute hyperammonemia, an increased awareness of this condition is probably more needed than anything else. Likewise, the immediate start of appropriate therapy is of utmost importance. This review focuses on a better understanding of factors leading to ammonia elevations and on practical aspects related to diagnosis and treatment in order to improve clinical management of hyperammonemia.

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Disorders of Amino Acid Metabolism, Organic Acidaemias and Urea Cycle Defects

Cited by 8 publications

References 111 publications

Suggested guidelines for the diagnosis and management of urea cycle disorders

Suggested guidelines for the diagnosis and management of urea cycle disorders

Nutrition process improvements for adult inpatients with inborn errors of metabolism using the i‐PARIHS framework

Clinical practice

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