Dietary practices in isovaleric acidemia: A European survey

Pinto, Alex; Daly, Anne; Evans, Sharon; Almeida, Manuela Ferreira de; Assoun, M.; Bélanger-Quintana, Amaya; Bernabei, S.; Bollhalder, S.; Cassiman, David; Champion, H.; Chan, Heidi; Dalmau, Jaime; Boer, Foekje de; Laet, Corinne De; Meyer, A. De; Desloovere, An; Dianin, Alice; Dixon, Marjorie; Dokoupil, Katharina; Dubois, Sandrine; Eyskens, François; Faria, Ana; Fasan, Ilaria; Favre, Elisabeth; Feillet, François; Fekete, Anna; Gallo, G.; Gingell, C.; Gribben, Joanna; Kaalund-Hansen, K.; Horst, Nienke Ter; Jankowski, C.M.; Janssen-Regelink, R.; Jones, I.; Jouault, C.; Kahrs, G.E.; Kok, Irene L.; Kowalik, Agnieszka; Laguerre, C.; Verge, S. Le; Lilje, R.; Maddalon, Cornelia; Mayr, Doris; Meyer, U.; Micciche, A.; Robert, M.; Rocha, Júlio César; Rogozinski, H.; Rohde, Carmen; Ross, Kathleen; Saruggia, I.; Schlune, Andrea; Singleton, Kath; Sjoqvist, E.; Stølen, Linn Helene; Terry, A.; Timmer, Corrie; Tomlinson, Lyndsey; Tooke, A.; Kerckhove, K. Vande; Dam, Esther van; Hurk, T. van den; Ploeg, Liesbeth van der; Driessche, Marleen Van den; Rijn, M. van; Teeffelen-Heithoff, A. van; Wegberg, Annemiek M. J. van; Vasconcelos, Carla Maria Lins de; Vestergaard, Helle; Vitoria, Isidro; Webster, Diana; White, Fiona J.; White, Lucy; Zweers, H.; MacDonald, Anita

doi:10.1016/j.ymgmr.2017.02.001

Cited by 18 publications

(22 citation statements)

References 44 publications

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“…The safety and efficacy of pharmacological and dietary management of IVA in adolescence and adulthood has not yet been systematically studied, and there is a need for international harmonization of treatment strategies. Considerable variations in the dietary management and pharmacotherapy still exist worldwide, which increases the risk of over-and undertreatment (Heringer et al 2016;Pinto et al 2017).…”

Section: Managementmentioning

confidence: 99%

Organic acidurias in adults: late complications and management

Tuncel

Boy

Morath

et al. 2018

J of Inher Metab Disea

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Organic acidurias (synonym, organic acid disorders, OADs) are a heterogenous group of inherited metabolic diseases delineated with the implementation of gas chromatography/mass spectrometry in metabolic laboratories starting in the 1960s and 1970s. Biochemically, OADs are characterized by accumulation of mono-, di- and/or tricarboxylic acids ("organic acids") and corresponding coenzyme A, carnitine and/or glycine esters, some of which are considered toxic at high concentrations. Clinically, disease onset is variable, however, affected individuals may already present during the newborn period with life-threatening acute metabolic crises and acute multi-organ failure. Tandem mass spectrometry-based newborn screening programmes, in particular for isovaleric aciduria and glutaric aciduria type 1, have significantly reduced diagnostic delay. Dietary treatment with low protein intake or reduced intake of the precursor amino acid(s), carnitine supplementation, cofactor treatment (in responsive patients) and nonadsorbable antibiotics is commonly used for maintenance treatment. Emergency treatment options with high carbohydrate/glucose intake, pharmacological and extracorporeal detoxification of accumulating toxic metabolites for intensified therapy during threatening episodes exist. Diagnostic and therapeutic measures have improved survival and overall outcome in individuals with OADs. However, it has become increasingly evident that the manifestation of late disease complications cannot be reliably predicted and prevented. Conventional metabolic treatment often fails to prevent irreversible organ dysfunction with increasing age, even if patients are considered to be "metabolically stable". This has challenged our understanding of OADs and has elicited the discussion on optimized therapy, including (early) organ transplantation, and long-term care.

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Section: Managementmentioning

confidence: 99%

Organic acidurias in adults: late complications and management

Tuncel

Boy

Morath

et al. 2018

J of Inher Metab Disea

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“…A cross sectional questionnaire (power point document) was sent to all members of the Society for the Study of Inborn Errors of Metabolism (SSIEM) by email as well as an extensive database of IMD dietetic colleagues ( n = 250) who have collaborated on previous surveys [ 17 , 18 ].…”

Section: Methodsmentioning

confidence: 99%

International practices in the dietary management of fructose 1-6 biphosphatase deficiency

Pinto¹,

Alfadhel

Akroyd

et al. 2018

Orphanet J Rare Dis

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BackgroundIn fructose 1,6 bisphosphatase (FBPase) deficiency, management aims to prevent hypoglycaemia and lactic acidosis by avoiding prolonged fasting, particularly during febrile illness. Although the need for an emergency regimen to avoid metabolic decompensation is well established at times of illness, there is uncertainty about the need for other dietary management strategies such as sucrose or fructose restriction. We assessed international differences in the dietary management of FBPase deficiency.MethodsA cross-sectional questionnaire (13 questions) was emailed to all members of the Society for the Study of Inborn Errors of Metabolism (SSIEM) and a wide database of inherited metabolic disorder dietitians.ResultsThirty-six centres reported the dietary prescriptions of 126 patients with FBPase deficiency. Patients’ age at questionnaire completion was: 1-10y, 46% (n = 58), 11-16y, 21% (n = 27), and >16y, 33% (n = 41). Diagnostic age was: <1y, 36% (n = 46); 1-10y, 59% (n = 74); 11-16y, 3% (n = 4); and >16y, 2% (n = 2). Seventy-five per cent of centres advocated dietary restrictions. This included restriction of: high sucrose foods only (n = 7 centres, 19%); fruit and sugary foods (n = 4, 11%); fruit, vegetables and sugary foods (n = 13, 36%). Twenty-five per cent of centres (n = 9), advised no dietary restrictions when patients were well. A higher percentage of patients aged >16y rather than ≤16y were prescribed dietary restrictions: patients aged 1-10y, 67% (n = 39/58), 11-16y, 63% (n = 17/27) and >16y, 85% (n = 35/41). Patients classified as having a normal fasting tolerance increased with age from 30% in 1-10y, to 36% in 11-16y, and 58% in >16y, but it was unclear if fasting tolerance was biochemically proven. Twenty centres (56%) routinely prescribed uncooked cornstarch (UCCS) to limit overnight fasting in 47 patients regardless of their actual fasting tolerance (37%). All centres advocated an emergency regimen mainly based on glucose polymer for illness management.ConclusionsAlthough all patients were prescribed an emergency regimen for illness, use of sucrose and fructose restricted diets with UCCS supplementation varied widely. Restrictions did not relax with age. International guidelines are necessary to help direct future dietary management of FBPase deficiency.

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“…Low-protein diets are an essential part of long-term management for all classical OAs [ 61 , 62 ]. Patients with PA or MMA should also receive supplementation with precursor-free synthetic amino acid mixtures, vitamins, minerals and fats [ 61 , 63 ].…”

Section: Clinical Management and Decision-making In Oasmentioning

confidence: 99%

Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories

Häberle

Chakrapani

Mew

et al. 2018

Orphanet J Rare Dis

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BackgroundThe ‘classic’ organic acidaemias (OAs) (propionic, methylmalonic and isovaleric) typically present in neonates or infants as acute metabolic decompensation with encephalopathy. This is frequently accompanied by severe hyperammonaemia and constitutes a metabolic emergency, as increased ammonia levels and accumulating toxic metabolites are associated with life-threatening neurological complications. Repeated and frequent episodes of hyperammonaemia (alongside metabolic decompensations) can result in impaired growth and intellectual disability, the severity of which increase with longer duration of hyperammonaemia. Due to the urgency required, diagnostic evaluation and initial management of patients with suspected OAs should proceed simultaneously. Paediatricians, who do not have specialist knowledge of metabolic disorders, have the challenging task of facilitating a timely diagnosis and treatment. This article outlines how the underlying pathophysiology and biochemistry of the organic acidaemias are closely linked to their clinical presentation and management, and provides practical advice for decision-making during early, acute hyperammonaemia and metabolic decompensation in neonates and infants with organic acidaemias.Clinical managementThe acute management of hyperammonaemia in organic acidaemias requires administration of intravenous calories as glucose and lipids to promote anabolism, carnitine to promote urinary excretion of urinary organic acid esters, and correction of metabolic acidosis with the substitution of bicarbonate for chloride in intravenous fluids. It may also include the administration of ammonia scavengers such as sodium benzoate or sodium phenylbutyrate. Treatment with N-carbamyl-L-glutamate can rapidly normalise ammonia levels by stimulating the first step of the urea cycle.ConclusionsOur understanding of optimal treatment strategies for organic acidaemias is still evolving. Timely diagnosis is essential and best achieved by the early identification of hyperammonaemia and metabolic acidosis. Correcting metabolic imbalance and hyperammonaemia are critical to prevent brain damage in affected patients.

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Dietary practices in isovaleric acidemia: A European survey

Cited by 18 publications

References 44 publications

Organic acidurias in adults: late complications and management

Organic acidurias in adults: late complications and management

International practices in the dietary management of fructose 1-6 biphosphatase deficiency

Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories

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