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, Jahrgang 8, 10.01.2013, S. 6.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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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 -