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

Sarah C. Grünert, Stephanie Müllerleile, Linda De Silva, Michael Barth, Melanie Walter, Kerstin Walter, Thomas Meissner, Martin Lindner, Regina Ensenauer, René Santer, Olaf A. Bodamer, Matthias R. Baumgartner, Michaela Brunner-Krainz, Daniela Karall, Claudia Haase, Ina Knerr, Thorsten Marquardt, Julia B. Hennermann, Robert Steinfeld, Skadi BebloHans Georg Koch, Vassiliki Konstantopoulou, Sabine Scholl-Bürgi, Agnes Van Teeffelen-Heithoff, Terttu Suormala, Wolfgang Sperl, Jan P. Kraus, Andrea Superti-Furga, Karl Otfried Schwab, Jörn Oliver Sass

Research output: Contribution to journalArticle

58 Citations (Scopus)

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.

Original languageEnglish
Article number6
JournalOrphanet Journal of Rare Diseases
Volume8
Issue number1
DOIs
StatePublished - Jan 15 2013

Fingerprint

Propionic Acidemia
Pediatrics
Quality of Life
Parents
Mentally Disabled Persons
Neurologic Manifestations
Heart Diseases
Newborn Infant

Keywords

  • Branched-chain amino acids
  • Clinical course
  • IQ
  • Long-term complications
  • Neurocognitive development
  • Outcome
  • Physical development
  • Propionic acidemia
  • Propionyl-coenzyme A carboxylase deficiency
  • Quality of life

ASJC Scopus subject areas

  • Medicine(all)
  • Genetics(clinical)
  • Pharmacology (medical)

Cite this

Grünert, S. C., Müllerleile, S., De Silva, L., Barth, M., Walter, M., Walter, K., ... Sass, J. O. (2013). Propionic acidemia: Clinical course and outcome in 55 pediatric and adolescent patients. Orphanet Journal of Rare Diseases, 8(1), [6]. https://doi.org/10.1186/1750-1172-8-6

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 Journal of Rare Diseases, Vol. 8, No. 1, 6, 15.01.2013.

Research output: Contribution to journalArticle

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, HG, 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 Journal of Rare Diseases, vol. 8, no. 1, 6. https://doi.org/10.1186/1750-1172-8-6
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. / Propionic acidemia : Clinical course and outcome in 55 pediatric and adolescent patients. In: Orphanet Journal of Rare Diseases. 2013 ; Vol. 8, No. 1.
@article{c21f1dc45320461db1101275a139bbd0,
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 = "Branched-chain amino acids, Clinical course, IQ, Long-term complications, Neurocognitive development, Outcome, Physical development, Propionic acidemia, Propionyl-coenzyme A carboxylase deficiency, Quality of life",
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 Koch, {Hans Georg} 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 = "1",
day = "15",
doi = "10.1186/1750-1172-8-6",
language = "English",
volume = "8",
journal = "Orphanet Journal of Rare Diseases",
issn = "1750-1172",
publisher = "BioMed Central",
number = "1",

}

TY - JOUR

T1 - Propionic acidemia

T2 - 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 - 2013/1/15

Y1 - 2013/1/15

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 - Branched-chain amino acids

KW - Clinical course

KW - IQ

KW - Long-term complications

KW - Neurocognitive development

KW - Outcome

KW - Physical development

KW - Propionic acidemia

KW - Propionyl-coenzyme A carboxylase deficiency

KW - Quality of life

UR - http://www.scopus.com/inward/record.url?scp=84872114602&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84872114602&partnerID=8YFLogxK

U2 - 10.1186/1750-1172-8-6

DO - 10.1186/1750-1172-8-6

M3 - Article

C2 - 23305374

AN - SCOPUS:84872114602

VL - 8

JO - Orphanet Journal of Rare Diseases

JF - Orphanet Journal of Rare Diseases

SN - 1750-1172

IS - 1

M1 - 6

ER -