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Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

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Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients. / Grünert, Sarah C; Müllerleile, Stephanie; De Silva, Linda; Barth, Michael; Walter, Melanie; Walter, Kerstin; Meissner, Thomas; Lindner, Martin; Ensenauer, Regina; Santer, René; Bodamer, Olaf A; Baumgartner, Matthias R; Brunner-Krainz, Michaela; Karall, Daniela; Haase, Claudia; Knerr, Ina; Marquardt, Thorsten; Hennermann, Julia B; Steinfeld, Robert; Beblo, Skadi; Koch, Hans-Georg; Konstantopoulou, Vassiliki; Scholl-Bürgi, Sabine; van Teeffelen-Heithoff, Agnes; Suormala, Terttu; Sperl, Wolfgang; Kraus, Jan P; Superti-Furga, Andrea; Schwab, Karl Otfried; Sass, Jörn Oliver.

In: ORPHANET J RARE DIS, Vol. 8, 10.01.2013, p. 6.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Grünert, SC, Müllerleile, S, De Silva, L, Barth, M, Walter, M, Walter, K, Meissner, T, Lindner, M, Ensenauer, R, Santer, R, Bodamer, OA, Baumgartner, MR, Brunner-Krainz, M, Karall, D, Haase, C, Knerr, I, Marquardt, T, Hennermann, JB, Steinfeld, R, Beblo, S, Koch, H-G, Konstantopoulou, V, Scholl-Bürgi, S, van Teeffelen-Heithoff, A, Suormala, T, Sperl, W, Kraus, JP, Superti-Furga, A, Schwab, KO & Sass, JO 2013, 'Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients', ORPHANET J RARE DIS, vol. 8, pp. 6. https://doi.org/10.1186/1750-1172-8-6

APA

Grünert, S. C., Müllerleile, S., De Silva, L., Barth, M., Walter, M., Walter, K., Meissner, T., Lindner, M., Ensenauer, R., Santer, R., Bodamer, O. A., Baumgartner, M. R., Brunner-Krainz, M., Karall, D., Haase, C., Knerr, I., Marquardt, T., Hennermann, J. B., Steinfeld, R., ... Sass, J. O. (2013). Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients. ORPHANET J RARE DIS, 8, 6. https://doi.org/10.1186/1750-1172-8-6

Vancouver

Grünert SC, Müllerleile S, De Silva L, Barth M, Walter M, Walter K et al. Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients. ORPHANET J RARE DIS. 2013 Jan 10;8:6. https://doi.org/10.1186/1750-1172-8-6

Bibtex

@article{aeb7d9c57009482484a723ee93544edc,
title = "Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients",
abstract = "BACKGROUND: Propionic acidemia is an inherited disorder caused by deficiency of propionyl-CoA carboxylase. Although it is one of the most frequent organic acidurias, information on the outcome of affected individuals is still limited.STUDY DESIGN/METHODS: Clinical and outcome data of 55 patients with propionic acidemia from 16 European metabolic centers were evaluated retrospectively. 35 patients were diagnosed by selective metabolic screening while 20 patients were identified by newborn screening. Endocrine parameters and bone age were evaluated. In addition, IQ testing was performed and the patients' and their families' quality of life was assessed.RESULTS: The vast majority of patients (>85%) presented with metabolic decompensation in the neonatal period. Asymptomatic individuals were the exception. About three quarters of the study population was mentally retarded, median IQ was 55. Apart from neurologic symptoms, complications comprised hematologic abnormalities, cardiac diseases, feeding problems and impaired growth. Most patients considered their quality of life high. However, according to the parents' point of view psychic problems were four times more common in propionic acidemia patients than in healthy controls.CONCLUSION: Our data show that the outcome of propionic acidemia is still unfavourable, in spite of improved clinical management. Many patients develop long-term complications affecting different organ systems. Impairment of neurocognitive development is of special concern. Nevertheless, self-assessment of quality of life of the patients and their parents yielded rather positive results.",
keywords = "Adolescent, Child, Child, Preschool, Cognition, Female, Humans, Infant, Intellectual Disability, Male, Propionic Acidemia/pathology, Psychomotor Performance, Quality of Life, Retrospective Studies, Treatment Outcome",
author = "Gr{\"u}nert, {Sarah C} and Stephanie M{\"u}llerleile and {De Silva}, Linda and Michael Barth and Melanie Walter and Kerstin Walter and Thomas Meissner and Martin Lindner and Regina Ensenauer and Ren{\'e} Santer and Bodamer, {Olaf A} and Baumgartner, {Matthias R} and Michaela Brunner-Krainz and Daniela Karall and Claudia Haase and Ina Knerr and Thorsten Marquardt and Hennermann, {Julia B} and Robert Steinfeld and Skadi Beblo and Hans-Georg Koch and Vassiliki Konstantopoulou and Sabine Scholl-B{\"u}rgi and {van Teeffelen-Heithoff}, Agnes and Terttu Suormala and Wolfgang Sperl and Kraus, {Jan P} and Andrea Superti-Furga and Schwab, {Karl Otfried} and Sass, {J{\"o}rn Oliver}",
year = "2013",
month = jan,
day = "10",
doi = "10.1186/1750-1172-8-6",
language = "English",
volume = "8",
pages = "6",
journal = "ORPHANET J RARE DIS",
issn = "1750-1172",
publisher = "BioMed Central Ltd.",

}

RIS

TY - JOUR

T1 - Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

AU - Grünert, Sarah C

AU - Müllerleile, Stephanie

AU - De Silva, Linda

AU - Barth, Michael

AU - Walter, Melanie

AU - Walter, Kerstin

AU - Meissner, Thomas

AU - Lindner, Martin

AU - Ensenauer, Regina

AU - Santer, René

AU - Bodamer, Olaf A

AU - Baumgartner, Matthias R

AU - Brunner-Krainz, Michaela

AU - Karall, Daniela

AU - Haase, Claudia

AU - Knerr, Ina

AU - Marquardt, Thorsten

AU - Hennermann, Julia B

AU - Steinfeld, Robert

AU - Beblo, Skadi

AU - Koch, Hans-Georg

AU - Konstantopoulou, Vassiliki

AU - Scholl-Bürgi, Sabine

AU - van Teeffelen-Heithoff, Agnes

AU - Suormala, Terttu

AU - Sperl, Wolfgang

AU - Kraus, Jan P

AU - Superti-Furga, Andrea

AU - Schwab, Karl Otfried

AU - Sass, Jörn Oliver

PY - 2013/1/10

Y1 - 2013/1/10

N2 - BACKGROUND: Propionic acidemia is an inherited disorder caused by deficiency of propionyl-CoA carboxylase. Although it is one of the most frequent organic acidurias, information on the outcome of affected individuals is still limited.STUDY DESIGN/METHODS: Clinical and outcome data of 55 patients with propionic acidemia from 16 European metabolic centers were evaluated retrospectively. 35 patients were diagnosed by selective metabolic screening while 20 patients were identified by newborn screening. Endocrine parameters and bone age were evaluated. In addition, IQ testing was performed and the patients' and their families' quality of life was assessed.RESULTS: The vast majority of patients (>85%) presented with metabolic decompensation in the neonatal period. Asymptomatic individuals were the exception. About three quarters of the study population was mentally retarded, median IQ was 55. Apart from neurologic symptoms, complications comprised hematologic abnormalities, cardiac diseases, feeding problems and impaired growth. Most patients considered their quality of life high. However, according to the parents' point of view psychic problems were four times more common in propionic acidemia patients than in healthy controls.CONCLUSION: Our data show that the outcome of propionic acidemia is still unfavourable, in spite of improved clinical management. Many patients develop long-term complications affecting different organ systems. Impairment of neurocognitive development is of special concern. Nevertheless, self-assessment of quality of life of the patients and their parents yielded rather positive results.

AB - BACKGROUND: Propionic acidemia is an inherited disorder caused by deficiency of propionyl-CoA carboxylase. Although it is one of the most frequent organic acidurias, information on the outcome of affected individuals is still limited.STUDY DESIGN/METHODS: Clinical and outcome data of 55 patients with propionic acidemia from 16 European metabolic centers were evaluated retrospectively. 35 patients were diagnosed by selective metabolic screening while 20 patients were identified by newborn screening. Endocrine parameters and bone age were evaluated. In addition, IQ testing was performed and the patients' and their families' quality of life was assessed.RESULTS: The vast majority of patients (>85%) presented with metabolic decompensation in the neonatal period. Asymptomatic individuals were the exception. About three quarters of the study population was mentally retarded, median IQ was 55. Apart from neurologic symptoms, complications comprised hematologic abnormalities, cardiac diseases, feeding problems and impaired growth. Most patients considered their quality of life high. However, according to the parents' point of view psychic problems were four times more common in propionic acidemia patients than in healthy controls.CONCLUSION: Our data show that the outcome of propionic acidemia is still unfavourable, in spite of improved clinical management. Many patients develop long-term complications affecting different organ systems. Impairment of neurocognitive development is of special concern. Nevertheless, self-assessment of quality of life of the patients and their parents yielded rather positive results.

KW - Adolescent

KW - Child

KW - Child, Preschool

KW - Cognition

KW - Female

KW - Humans

KW - Infant

KW - Intellectual Disability

KW - Male

KW - Propionic Acidemia/pathology

KW - Psychomotor Performance

KW - Quality of Life

KW - Retrospective Studies

KW - Treatment Outcome

U2 - 10.1186/1750-1172-8-6

DO - 10.1186/1750-1172-8-6

M3 - SCORING: Journal article

C2 - 23305374

VL - 8

SP - 6

JO - ORPHANET J RARE DIS

JF - ORPHANET J RARE DIS

SN - 1750-1172

ER -