Clinical outcome and long-term management of 17 patients with propionic acidaemia

Meer, Skadi van der; Poggi, F; Spada, Marco; Bonnefont, Jean‐Paul; Ogier, H.; Hubert, Philippe; Depondt, Eliane; Rapoport, D.; Rabier, Daniel; Charpentier, C.; Parvy, P; Bardet, Jean-Marc; Kamoun, P.; Saudubray, Jean Marie

doi:10.1007/bf01953939

Cited by 79 publications

(88 citation statements)

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“…Up to now, several reports compiling clinical and biochemical data have been published, but the relationship between phenotype and genotype has not been fully understood [14,15]. Recently in one study, the correlation was described in PCCB homozygotes presenting with early onset form [20].…”

Section: Discussionmentioning

confidence: 99%

Molecular analysis of PCCB gene in Korean patients with propionic acidemia

Kim

Ryu

Lee

et al. 2002

Molecular Genetics and Metabolism

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Section: Discussionmentioning

confidence: 99%

Molecular analysis of PCCB gene in Korean patients with propionic acidemia

Kim

Ryu

Lee

et al. 2002

Molecular Genetics and Metabolism

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“…Some patients have late-onset disease (manifested any time after three months of age), show milder symptoms, and long survival rate. PA is usually associated with long-term neurological complications and is characterized by recurrent episodes of metabolic crises (2). Several metabolites and physiological stressors are thought to account for many of the acute and chronic disease manifestations.…”

Section: Introductionmentioning

confidence: 99%

“…Common findings include metabolic acidosis, ketosis, hyperammonemia, increased incidence of infections and bone marrow suppression. During metabolic crises, total protein restriction, reversal of catabolism and rapid detoxification are essential life-saving steps to prevent acute brain injury, severe morbidity and mortality (2). Treatment options include low protein diet, carnitine, biotin, a precursor free amino acid formula and alkaline therapy.…”

Section: Introductionmentioning

confidence: 99%

“…Hemodiafilteration/hemodialysis is recommended for severe hyperammonemia, extreme acidosis, and dangerous electrolyte imbalance (3). Packed red blood cells (RBCs) transfusion and/or granulocyte colony stimulating factors (G-CSF) are recommended in anemia, neutropenia, or bone marrow suppression (2). Antibiotics are commonly used during metabolic crises, which have strong association with immuno-suppression and sepsis (1).…”

Section: Introductionmentioning

confidence: 99%

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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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“…La presentación neonatal se asocia a una alta mortalidad (29,30). Aun en los pacientes tratados, se ha informado atrofia cerebral y aumento de lactato en el tejido cerebral (31).…”

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Acidemia orgánica (propiónica) en un neonato detectada por espectrometría de masas en tándem

et al. 2008

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Institución donde se llevó a cabo el trabajo: Instituto Materno-Infantil, Universidad Nacional de Colombia, Bogotá, D.C., Colombia La acidemia propiónica es un error innato del metabolismo de herencia autosómica recesiva, causada por la deficiencia de la enzima propionil CoA carboxilasa, que cataliza la conversión de propionil CoA a malonil CoA. Es la principal causa de hiperglicinemia cetósica. En el período neonatal se manifiesta comúnmente con vómito, dificultad en la alimentación, hipotonía, letargia, acidosis metabólica, cetosis e hiperamonemia. Se presenta el caso de una recién nacida con cuadro clínico de encefalopatía asociada a hipoglucemia, cetonuria, hiperamonemia, acidosis metabólica con anión gap aumentado, anemia, leucopenia y trombocitopenia en quien se diagnosticó una acidemia orgánica mediante espectrometría de masas en tándem. Existían antecedentes de consanguinidad entre los padres, de un aborto, un mortinato y tres muertes neonatales, sugestivo de enfermedad genética.Palabras clave: recién nacido, encefalopatías, cuerpos cetónicos, hiperamonemia, espectrometría de masas en tándem. Neonatal onset of organic acidemia (propionic) diagnosed by tandem mass spectrometryPropionic acidemia is an autosomal recessive disorder as a result of a deficient activity of propionyl-CoA carboxylase. Propionyl CoA is metabolized by propionyl-CoA carboxylase to methylmalonyl CoA. Propionic acidemia is a major cause of ketotic hyperglycinemia. This disorder is characterized by episodic vomiting, dehydratation, feeding intolerante, lethargy, hypotonia, metabolic acidosis, ketosis and hyperammonemia. The patient presented herein was a full-term female newborn with encephalopathy in the first days of life. She presented hypoglycemia, metabolic acidosis with increased anion gap, ketosis, hyperammonemia, anemia, leukopenia and thrombocytopenia. The brain ultrasonography was normal. The tandem mass expectrometry done by Pediatrix was abnormal, with the acylcarnitine results consistent with an organic acidemia. The parents are consanguineus and have a history of abortus, miscarriage and neonatal death, characteristics suggestive of the presence of genetic defects.

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Clinical outcome and long-term management of 17 patients with propionic acidaemia

Cited by 79 publications

References 20 publications

Molecular analysis of PCCB gene in Korean patients with propionic acidemia

Molecular analysis of PCCB gene in Korean patients with propionic acidemia

Emerging trends in management of propionic acidemia

Acidemia orgánica (propiónica) en un neonato detectada por espectrometría de masas en tándem

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