Chronic management and health supervision of individuals with propionic acidemia

Sutton, V. Reid; Chapman, Kimberly A.; Gropman, Andrea; MacLeod, Erin; Stagni, Kathy; Summar, Marshall; Ueda, Keiko; Mew, Nicholas Ah; Franks, Jill; Island, Eddie; Matern, Dietrich; Peña, Loren; Smith, Brian K.; Urv, Tina K.; Venditti, Charles P.; Chakarapani, Anupam

doi:10.1016/j.ymgme.2011.08.034

Cited by 72 publications

(87 citation statements)

References 56 publications

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“…• Regular use of carnitine is required to avoid metabolic decompensations and to prevent secondary deficiency of this agent (7,15). In accordance with another report (7), 92% of our patients used it regularly.…”

Section: Reversal Of Catabolismsupporting

confidence: 83%

“…• In addition to prevention of constipation, for gut flora control, long-term oral antimicrobial (metronidazole) therapy may offer significant clinical benefits in children with PA (7,15). In line with another report, 13% of our patients were on long-term metronidazole therapy (7).…”

Section: Reversal Of Catabolismsupporting

confidence: 81%

“…In a case series, most of the patients received a diet that restricted natural protein. In addition, a nonpropiogenic amino acid mixture was supplemented to meet age-appropriate protein intake recommendations (7,14,15). In the present study, almost all patients were found to be managed completely/partially with MNT, amino acid mixture, vitamins, and minerals.…”

Section: Reversal Of Catabolismmentioning

confidence: 68%

“…• Many PA patients were poor oral feeders. Nasogastric/gastrostomy (NG/G) tube feeding can be used to meet daily metabolic nutrition therapy goals when patients are anorexic, as it is often seen in PA (3,15). Our 20% children were exclusively on NG/G tube feeding.…”

Section: Reversal Of Catabolismmentioning

confidence: 94%

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Emerging trends in management of propionic acidemia

Rafique

2014

Arq Bras Endocrinol Metab

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Objetivo: To evaluate the therapeutic agents used during metabolic crises and in long-term management of patients with propionic acidemia (PA). Materials and methods: The records of PA patients were retrospectively evaluated. Results: The study group consisted of 30 patients with 141 admissions. During metabolic crises, hyperammonemia was found in 130 (92%) admissions and almost all patients were managed with normal saline, ≥ 10% dextrose, and restriction of protein intake. In 56 (40%) admissions, management was done in intensive care unit, 31 (22%) with mechanical ventilation, 10 (7%) with haemodialysis, 16 (11%) with vasopressor agents, and 12 (9%) with insulin. In the rescue procedure, L-carnitine was used in 135 (96%) patients, sodium bicarbonate in 116 (82%), sodium benzoate in 76 (54%), and metronidazole in 10 (7%), biotin in about one-quarter, L-arginine in one third, and antibiotics in three-quarter of the admissions. Blood/packed RBCs were used in 28 (20%) patients, platelets in 26 (18%), fresh frozen plasma in 8 (6%), and granulocyte--colony stimulating factors in 10 (7%) admissions. All patients were managed completely/partially with medical nutrition formula plus amino acid mixture, vitamins and minerals. For long-term management 24 (80%) patients were on L-carnitine, 22 (73%) on sodium benzoate, 6 (20%) on biotin, one half on alkaline therapy and 4 (13%) on regular metronidazole use. Almost all patients were on medical formula and regular follow-up. Conclusion: Aggressive and adequate management of acute metabolic crises with restriction of protein intake, stabilization of patient, reversal of catabolism, and removal of toxic metabolites are essential steps. Concerted efforts to ensure adequate nutrition, to minimize the risk of acute decompensation and additional therapeutic advances are imperative to improve the outcome of PA patients. Arq Bras Endocrinol Metab. 2014;58(3):237-42 Keywords Propionate; therapeutic agents; management; latest trends; metabolic crises; hyperammonaemia RESUMO Objetivo: Avaliar os agentes terapêuticos usados durante as crises metabólicas e para o manejo de longo prazo de pacientes com academia propiônica (AP). Materiais e métodos: Avaliação retrospectiva das fichas médicas de pacientes com AP. Resultados: O grupo estudado consistiu de 30 pacientes com 141 hospitalizações. Durante as crises metabólicas, a hiperamonemia foi observada em 130 (92%) pacientes hospitalizados e quase todos foram tratados com solução salina regular, ≥ 10% dextrose e restrição da ingestão de proteína. Em 56 (40%) das hospitalizações, o manejo foi feito na unidade de terapia intensiva, 31(22%) com ventilação mecânica, 10 (7%) com hemodiálise, 16 (11%) com vasopressores e 12 (9%) com insulina. Para o resgate, a L-carnitina foi usada em 135 (96%) pacientes, o bicarbonato de sódio em 116 (82%), o benzoato de sódio em 76 (54%), o metronidazole em 10 (7%), a biotina em cerca de um quarto, a L-arginina em um quarto e antibióticos em três quartos dos pacientes hospitalizados. Sangue/concentrado d...

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Section: Reversal Of Catabolismsupporting

confidence: 83%

Section: Reversal Of Catabolismsupporting

confidence: 81%

Section: Reversal Of Catabolismmentioning

confidence: 68%

Section: Reversal Of Catabolismmentioning

confidence: 94%

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Emerging trends in management of propionic acidemia

Rafique

2014

Arq Bras Endocrinol Metab

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“…PA may also present like an immune disorder with neutropenia and pancytopenia due to bone marrow suppression. The probable biochemical basis is not established; however, chronic neutropenia and pancytopenia beyond neonatal period is not reported [6]. Considerable delay in diagnosis in our case was due to evaluation for immunodeficiency in view of fungal sepsis.…”

Section: Discussionmentioning

confidence: 66%

Biochemical Basis of Heterogeneity in Acute Presentations of Propionic Acidemia

et al. 2012

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Long‐term follow‐up with filter paper samples in patients with propionic acidemia

et al. 2020

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BackgroundPropionic acidemia (PA) is an inherited disorder caused by deficiency of propionyl CoA carboxylase. Most patients with this disorder are diagnosed during the neonatal period because of severe metabolic acidosis and hyperammonemia. Patients are required to undergo blood and urine analysis at least 3 to 4 times per year, depending on age and metabolic control.MethodsWe designed a prospective study in which we investigated the results from blood and urinary samples collected monthly in filter paper from 10 PA patients followed in a single metabolic reference center from January 2015 to September 2017. The aim of this study was to evaluate the usefulness of filter paper samples in the follow‐up of the PA patients.ResultsDuring the follow‐up period, 163 dried blood spot (DBS) and 119 urine dried spot samples were analyzed and compared with 160 plasma and 103 liquid urine specimens; 64 specimens of plasma were analyzed for odd‐numbered long‐chain fatty acids (OLCFAs). A total of 40 metabolic crises, 18 of them with hyperammonemia were documented. We observed a strong correlation between the filter paper and the urine/plasma samples for the main PA parameters both in stable metabolic conditions as well as in acute decompensations. Also, there was a strong correlation between OLCFAs measured in plasma and quantification of odd number acylcarnitines in DBS.ConclusionsWe conclude that filter paper blood and urinary samples can be used for the follow‐up of the patients with PA, correctly reflecting their metabolic situation.

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Chronic management and health supervision of individuals with propionic acidemia

Cited by 72 publications

References 56 publications

Emerging trends in management of propionic acidemia

Emerging trends in management of propionic acidemia

Biochemical Basis of Heterogeneity in Acute Presentations of Propionic Acidemia

Long‐term follow‐up with filter paper samples in patients with propionic acidemia

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