Late Onset Optic Neuropathy in Methylmalonic and Propionic Acidemia

Williams, Zoë; Hurley, P. Emmett; Altiparmak, Uğur; Feldon, Steven E.; Arnold, Georgianne L.; Eggenberger, Eric; Mejico, Luis J.

doi:10.1016/j.ajo.2008.12.024

Cited by 51 publications

(36 citation statements)

References 10 publications

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“…Compared to previously reported late-onset optic nerve atrophy in patients with methylmalonic aciduria and propionic aciduria, 7 our patient is the oldest. The previous report suggested that optic nerve atrophy observed in propionic aciduria and methylmalonic aciduria resembled Leber hereditary optic neuropathy (LHON), 7 as both showed optic nerve atrophy and normal retina.…”

Section: Sectionmentioning

confidence: 82%

“…The previous report suggested that optic nerve atrophy observed in propionic aciduria and methylmalonic aciduria resembled Leber hereditary optic neuropathy (LHON), 7 as both showed optic nerve atrophy and normal retina. LHON is caused by 1 of 3 pathogenic mtDNA mutations at the nucleotide positions 11,778, 3,460, and 14,484, located in genes encoding the mitochondrial complex I subunits.…”

Section: Sectionmentioning

confidence: 99%

“…However, various complications, including basal ganglia lesions, cardiomyopathy, and optic nerve atrophy, were reported in patients without metabolic decompensation. 2,7 Even after liver transplantation, stroke-like episodes or cardiomyopathy was reported. 10 Thus, conventional management is insufficient to improve the long-term prognosis for propionic aciduria patients, indicating the need for novel therapeutic approaches based on a better understanding of the pathophysiology.…”

Section: Sectionmentioning

confidence: 99%

“…Optic nerve atrophy is age-dependent, but independent of metabolic control, other neurologic complications, and overall health status. 7 Therefore, we recommend regular ophthalmologic examination of patients with propionica aciduria and methylmalonic aciduria.…”

Section: Sectionmentioning

confidence: 99%

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Clinical Reasoning: A young man with progressive subcortical lesions and optic nerve atrophy

et al. 2012

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Section: Sectionmentioning

confidence: 82%

Section: Sectionmentioning

confidence: 99%

Section: Sectionmentioning

confidence: 99%

Section: Sectionmentioning

confidence: 99%

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Clinical Reasoning: A young man with progressive subcortical lesions and optic nerve atrophy

et al. 2012

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“…During acute intermittent illnesses, high-energy feeds without the precursor amino acids are required to prevent metabolic decompensation (Ogier de Baulny et al 2005;McDonald et al 2007;Deodato et al 2006). The prognosis of PA has been improving in the last years, with a larger amount of patients reaching adult life (Martín-Hernández et al 2009;Pérez-Cerdá et al 2000;Baumgartner et al 2007;Williams et al 2009). …”

Section: Introductionmentioning

confidence: 99%

Nutritional and Pharmacological Management during Chemotherapy in a Patient with Propionic Acidaemia and Rhabdomyosarcoma Botryoides

et al. 2012

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We present the nutritional and pharmacological management of a 2-year-old girl with a severe form of propionic acidaemia and a genitourinary embryonal rhabdomyosarcoma. This association has not been described before, nor the utilization of chemotherapy in patients with propionic acidaemia.The patient is a girl with neonatal onset of propionic acidaemia, homozygous for the c.2041-2924del3889 mutation in PCCA gene. At 23 months of age she was diagnosed with genitourinary embryonal rhabdomyosarcoma. Conservative surgery, brachytherapy and nine cycles of chemotherapy with iphosphamide, vincristine and actinomycin were recommended by oncologists. Due to the possibility that the child could present decompensations, we elaborated three different courses of treatment: when the patient was stable (treatment 1), intermittent bolus feeding through gastrostomy, containing 70 kcal/kg/day and 1.4 g/kg/day of total protein (0.6 g/kg/day of natural protein and 0.8 g/kg/ day of amino acid-based formula) was prescribed; on the chemotherapy-days (treatment 2), diet consisted on continuous feeding, with the same energy and amino acid-based formula but half of natural protein intake; in case of decompensation (treatment 3), we increased by 10% the energy intake, and completely stopped natural protein in the diet but maintaining the amino acid-based formula. On chemotherapy-days carnitine was increased from 100 mg/kg/day to 150 mg/kg/ day, and N-carbamylglutamate was added.Through the 7 months with chemotherapy the patient did not suffer decompensations, while she maintained good nutritional status.Enteral continuous feeding by gastrostomy, amino acidbased formula, and preventive use of N-carbamylglutamate during chemotherapy-days are the principal measures we propose in these situations. Sentence Summary This article describes, for the first time, the management of a patient with propionic acidaemia through 7 months with chemotherapy. Enteral continuous feeding, amino acid-based formula, and preventive use of N-carbamylglutamate during the days of chemotherapy are the principal measures we propose in these situations. AbbreviationsE. Martín-Hernández : P. Quijada-Fraile : L. Oliveros-Leal :

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Survey of health status and complications among propionic acidemia patients

Peña

Burton

2012

American J of Med Genetics Pt A

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Propionic acidemia (PA) is a rare organic acidemia that is due to deficiency in the enzyme propionyl-coA carboxylase. Complications are currently described mostly in the form of case reports. We sampled a population of affected individuals in order to estimate the frequency of complications amongst the sample. The study is a cross-sectional retrospective review with a survey instrument and recruitment through the Propionic Acidemia Foundation. Responses for 58 individuals were tabulated for each question as how frequently the complication was reported among responders. Commonly reported findings included seizures, arrhythmia, leucopenia, and anemia. Developmental and cognitive disabilities were reported in the majority of individuals. Heart failure or cardiomyopathy was reported in over half of deceased individuals at time of death. Pancreatitis was reported in a minority of the sample, yet more than half of these reported a recurrence. These results update and extend our current knowledge of recognized complications among individuals with PA. The results also provide new information regarding developmental outcomes and previously unreported morbidity from cardiac and gastrointestinal complications. Longitudinal studies exploring associated biochemical and clinical parameters are necessary to further our understanding of the pathophysiology of PA and its complications.

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Late Onset Optic Neuropathy in Methylmalonic and Propionic Acidemia

Cited by 51 publications

References 10 publications

Clinical Reasoning: A young man with progressive subcortical lesions and optic nerve atrophy

Clinical Reasoning: A young man with progressive subcortical lesions and optic nerve atrophy

Nutritional and Pharmacological Management during Chemotherapy in a Patient with Propionic Acidaemia and Rhabdomyosarcoma Botryoides

Survey of health status and complications among propionic acidemia patients

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