The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

Stefan Kölker; Vassili Valayannopoulos; Alberto B Burlina; Jolanta Sykut-Cegielska; Frits A Wijburg; Elisa Leão Teles; Jiri Zeman; Carlo Dionisi-Vici; Ivo Barić; Daniela Karall; Jean-Baptiste Arnoux; Paula Avram; Matthias R Baumgartner; Javier Blasco-Alonso; S P Nikolas Boy; Marlene Bøgehus Rasmussen; Peter Burgard; Brigitte Chabrol; Anupam Chakrapani; Kimberly Chapman; Elisenda Cortès I Saladelafont; Maria L Couce; Linda de Meirleir; Dries Dobbelaere; Francesca Furlan; Florian Gleich; Maria Julieta González; Wanda Gradowska; Stephanie Grünewald; Tomas Honzik; Friederike Hörster; Hariklea Ioannou; Anil Jalan; Johannes Häberle; Gisela Haege; Eveline Langereis; Pascale de Lonlay; Diego Martinelli; Shirou Matsumoto; Chris Mühlhausen; Elaine Murphy; Hélène Ogier de Baulny; Carlos Ortez; Consuelo C Pedrón; Guillem Pintos-Morell; Luis Pena-Quintana; Danijela Petković Ramadža; Esmeralda Rodrigues; Sabine Scholl-Bürgi; Etienne Sokal; Marshall L Summar; Nicholas Thompson; Roshni Vara; Inmaculada Vives Pinera; John H Walter; Monique Williams; Allan M Lund; Angeles Garcia Cazorla

doi:10.1007/s10545-015-9840-x

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

Stefan Kölker, Vassili Valayannopoulos, Alberto B Burlina, Jolanta Sykut-Cegielska, Frits A Wijburg, Elisa Leão Teles, Jiri Zeman, Carlo Dionisi-Vici, Ivo Barić, Daniela Karall, Jean-Baptiste Arnoux, Paula Avram, Matthias R Baumgartner, Javier Blasco-Alonso, S P Nikolas Boy, Marlene Bøgehus Rasmussen, Peter Burgard, Brigitte Chabrol, Anupam Chakrapani, Kimberly ChapmanElisenda Cortès I Saladelafont, Maria L Couce, Linda de Meirleir, Dries Dobbelaere, Francesca Furlan, Florian Gleich, Maria Julieta González, Wanda Gradowska, Stephanie Grünewald, Tomas Honzik, Friederike Hörster, Hariklea Ioannou, Anil Jalan, Johannes Häberle, Gisela Haege, Eveline Langereis, Pascale de Lonlay, Diego Martinelli, Shirou Matsumoto, Chris Mühlhausen, Elaine Murphy, Hélène Ogier de Baulny, Carlos Ortez, Consuelo C Pedrón, Guillem Pintos-Morell, Luis Pena-Quintana, Danijela Petković Ramadža, Esmeralda Rodrigues, Sabine Scholl-Bürgi, Etienne Sokal, Marshall L Summar, Nicholas Thompson, Roshni Vara, Inmaculada Vives Pinera, John H Walter, Monique Williams, Allan M Lund, Angeles Garcia Cazorla

Afdeling for Genetik

183 Citationer (Scopus)

Abstract

BACKGROUND: The disease course and long-term outcome of patients with organic acidurias (OAD) and urea cycle disorders (UCD) are incompletely understood.

AIMS: To evaluate the complex clinical phenotype of OAD and UCD patients at different ages.

RESULTS: Acquired microcephaly and movement disorders were common in OAD and UCD highlighting that the brain is the major organ involved in these diseases. Cardiomyopathy [methylmalonic (MMA) and propionic aciduria (PA)], prolonged QTc interval (PA), optic nerve atrophy [MMA, isovaleric aciduria (IVA)], pancytopenia (PA), and macrocephaly [glutaric aciduria type 1 (GA1)] were exclusively found in OAD patients, whereas hepatic involvement was more frequent in UCD patients, in particular in argininosuccinate lyase (ASL) deficiency. Chronic renal failure was often found in MMA, with highest frequency in mut(0) patients. Unexpectedly, chronic renal failure was also observed in adolescent and adult patients with GA1 and ASL deficiency. It had a similar frequency in patients with or without a movement disorder suggesting different pathophysiology. Thirteen patients (classic OAD: 3, UCD: 10) died during the study interval, ten of them during the initial metabolic crisis in the newborn period. Male patients with late-onset ornithine transcarbamylase deficiency were presumably overrepresented in the study population.

CONCLUSIONS: Neurologic impairment is common in OAD and UCD, whereas the involvement of other organs (heart, liver, kidneys, eyes) follows a disease-specific pattern. The identification of unexpected chronic renal failure in GA1 and ASL deficiency emphasizes the importance of a systematic follow-up in patients with rare diseases.

Originalsprog	Engelsk
Tidsskrift	Journal of Inherited Metabolic Disease
Vol/bind	38
Udgave nummer	6
Sider (fra-til)	1059-74
Antal sider	16
ISSN	0141-8955
DOI	https://doi.org/10.1007/s10545-015-9840-x
Status	Udgivet - nov. 2015

Adgang til dokumentet

10.1007/s10545-015-9840-x

Citationsformater

Kölker, S., Valayannopoulos, V., Burlina, A. B., Sykut-Cegielska, J., Wijburg, F. A., Teles, E. L., Zeman, J., Dionisi-Vici, C., Barić, I., Karall, D., Arnoux, J.-B., Avram, P., Baumgartner, M. R., Blasco-Alonso, J., Boy, S. P. N., Rasmussen, M. B., Burgard, P., Chabrol, B., Chakrapani, A., ... Garcia Cazorla, A. (2015). The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. Journal of Inherited Metabolic Disease, 38(6), 1059-74. https://doi.org/10.1007/s10545-015-9840-x

Kölker, S, Valayannopoulos, V, Burlina, AB, Sykut-Cegielska, J, Wijburg, FA, Teles, EL, Zeman, J, Dionisi-Vici, C, Barić, I, Karall, D, Arnoux, J-B, Avram, P, Baumgartner, MR, Blasco-Alonso, J, Boy, SPN, Rasmussen, MB, Burgard, P, Chabrol, B, Chakrapani, A, Chapman, K, Cortès I Saladelafont, E, Couce, ML, de Meirleir, L, Dobbelaere, D, Furlan, F, Gleich, F, González, MJ, Gradowska, W, Grünewald, S, Honzik, T, Hörster, F, Ioannou, H, Jalan, A, Häberle, J, Haege, G, Langereis, E, de Lonlay, P, Martinelli, D, Matsumoto, S, Mühlhausen, C, Murphy, E, de Baulny, HO, Ortez, C, Pedrón, CC, Pintos-Morell, G, Pena-Quintana, L, Ramadža, DP, Rodrigues, E, Scholl-Bürgi, S, Sokal, E, Summar, ML, Thompson, N, Vara, R, Pinera, IV, Walter, JH, Williams, M, Lund, AM & Garcia Cazorla, A 2015, 'The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype', Journal of Inherited Metabolic Disease, bind 38, nr. 6, s. 1059-74. https://doi.org/10.1007/s10545-015-9840-x

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title = "The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype",

abstract = "BACKGROUND: The disease course and long-term outcome of patients with organic acidurias (OAD) and urea cycle disorders (UCD) are incompletely understood.AIMS: To evaluate the complex clinical phenotype of OAD and UCD patients at different ages.RESULTS: Acquired microcephaly and movement disorders were common in OAD and UCD highlighting that the brain is the major organ involved in these diseases. Cardiomyopathy [methylmalonic (MMA) and propionic aciduria (PA)], prolonged QTc interval (PA), optic nerve atrophy [MMA, isovaleric aciduria (IVA)], pancytopenia (PA), and macrocephaly [glutaric aciduria type 1 (GA1)] were exclusively found in OAD patients, whereas hepatic involvement was more frequent in UCD patients, in particular in argininosuccinate lyase (ASL) deficiency. Chronic renal failure was often found in MMA, with highest frequency in mut(0) patients. Unexpectedly, chronic renal failure was also observed in adolescent and adult patients with GA1 and ASL deficiency. It had a similar frequency in patients with or without a movement disorder suggesting different pathophysiology. Thirteen patients (classic OAD: 3, UCD: 10) died during the study interval, ten of them during the initial metabolic crisis in the newborn period. Male patients with late-onset ornithine transcarbamylase deficiency were presumably overrepresented in the study population.CONCLUSIONS: Neurologic impairment is common in OAD and UCD, whereas the involvement of other organs (heart, liver, kidneys, eyes) follows a disease-specific pattern. The identification of unexpected chronic renal failure in GA1 and ASL deficiency emphasizes the importance of a systematic follow-up in patients with rare diseases.",

author = "Stefan K{\"o}lker and Vassili Valayannopoulos and Burlina, {Alberto B} and Jolanta Sykut-Cegielska and Wijburg, {Frits A} and Teles, {Elisa Le{\~a}o} and Jiri Zeman and Carlo Dionisi-Vici and Ivo Bari{\'c} and Daniela Karall and Jean-Baptiste Arnoux and Paula Avram and Baumgartner, {Matthias R} and Javier Blasco-Alonso and Boy, {S P Nikolas} and Rasmussen, {Marlene B{\o}gehus} and Peter Burgard and Brigitte Chabrol and Anupam Chakrapani and Kimberly Chapman and {Cort{\`e}s I Saladelafont}, Elisenda and Couce, {Maria L} and {de Meirleir}, Linda and Dries Dobbelaere and Francesca Furlan and Florian Gleich and Gonz{\'a}lez, {Maria Julieta} and Wanda Gradowska and Stephanie Gr{\"u}newald and Tomas Honzik and Friederike H{\"o}rster and Hariklea Ioannou and Anil Jalan and Johannes H{\"a}berle and Gisela Haege and Eveline Langereis and {de Lonlay}, Pascale and Diego Martinelli and Shirou Matsumoto and Chris M{\"u}hlhausen and Elaine Murphy and {de Baulny}, {H{\'e}l{\`e}ne Ogier} and Carlos Ortez and Pedr{\'o}n, {Consuelo C} and Guillem Pintos-Morell and Luis Pena-Quintana and Ramad{\v z}a, {Danijela Petkovi{\'c}} and Esmeralda Rodrigues and Sabine Scholl-B{\"u}rgi and Etienne Sokal and Summar, {Marshall L} and Nicholas Thompson and Roshni Vara and Pinera, {Inmaculada Vives} and Walter, {John H} and Monique Williams and Lund, {Allan M} and {Garcia Cazorla}, Angeles",

year = "2015",

month = nov,

doi = "10.1007/s10545-015-9840-x",

language = "English",

volume = "38",

pages = "1059--74",

journal = "Journal of Inherited Metabolic Disease",

issn = "0141-8955",

publisher = "Springer Netherlands",

number = "6",

}

TY - JOUR

T1 - The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2

T2 - the evolving clinical phenotype

AU - Kölker, Stefan

AU - Valayannopoulos, Vassili

AU - Burlina, Alberto B

AU - Sykut-Cegielska, Jolanta

AU - Wijburg, Frits A

AU - Teles, Elisa Leão

AU - Zeman, Jiri

AU - Dionisi-Vici, Carlo

AU - Barić, Ivo

AU - Karall, Daniela

AU - Arnoux, Jean-Baptiste

AU - Avram, Paula

AU - Baumgartner, Matthias R

AU - Blasco-Alonso, Javier

AU - Boy, S P Nikolas

AU - Rasmussen, Marlene Bøgehus

AU - Burgard, Peter

AU - Chabrol, Brigitte

AU - Chakrapani, Anupam

AU - Chapman, Kimberly

AU - Cortès I Saladelafont, Elisenda

AU - Couce, Maria L

AU - de Meirleir, Linda

AU - Dobbelaere, Dries

AU - Furlan, Francesca

AU - Gleich, Florian

AU - González, Maria Julieta

AU - Gradowska, Wanda

AU - Grünewald, Stephanie

AU - Honzik, Tomas

AU - Hörster, Friederike

AU - Ioannou, Hariklea

AU - Jalan, Anil

AU - Häberle, Johannes

AU - Haege, Gisela

AU - Langereis, Eveline

AU - de Lonlay, Pascale

AU - Martinelli, Diego

AU - Matsumoto, Shirou

AU - Mühlhausen, Chris

AU - Murphy, Elaine

AU - de Baulny, Hélène Ogier

AU - Ortez, Carlos

AU - Pedrón, Consuelo C

AU - Pintos-Morell, Guillem

AU - Pena-Quintana, Luis

AU - Ramadža, Danijela Petković

AU - Rodrigues, Esmeralda

AU - Scholl-Bürgi, Sabine

AU - Sokal, Etienne

AU - Summar, Marshall L

AU - Thompson, Nicholas

AU - Vara, Roshni

AU - Pinera, Inmaculada Vives

AU - Walter, John H

AU - Williams, Monique

AU - Lund, Allan M

AU - Garcia Cazorla, Angeles

PY - 2015/11

Y1 - 2015/11

N2 - BACKGROUND: The disease course and long-term outcome of patients with organic acidurias (OAD) and urea cycle disorders (UCD) are incompletely understood.AIMS: To evaluate the complex clinical phenotype of OAD and UCD patients at different ages.RESULTS: Acquired microcephaly and movement disorders were common in OAD and UCD highlighting that the brain is the major organ involved in these diseases. Cardiomyopathy [methylmalonic (MMA) and propionic aciduria (PA)], prolonged QTc interval (PA), optic nerve atrophy [MMA, isovaleric aciduria (IVA)], pancytopenia (PA), and macrocephaly [glutaric aciduria type 1 (GA1)] were exclusively found in OAD patients, whereas hepatic involvement was more frequent in UCD patients, in particular in argininosuccinate lyase (ASL) deficiency. Chronic renal failure was often found in MMA, with highest frequency in mut(0) patients. Unexpectedly, chronic renal failure was also observed in adolescent and adult patients with GA1 and ASL deficiency. It had a similar frequency in patients with or without a movement disorder suggesting different pathophysiology. Thirteen patients (classic OAD: 3, UCD: 10) died during the study interval, ten of them during the initial metabolic crisis in the newborn period. Male patients with late-onset ornithine transcarbamylase deficiency were presumably overrepresented in the study population.CONCLUSIONS: Neurologic impairment is common in OAD and UCD, whereas the involvement of other organs (heart, liver, kidneys, eyes) follows a disease-specific pattern. The identification of unexpected chronic renal failure in GA1 and ASL deficiency emphasizes the importance of a systematic follow-up in patients with rare diseases.

AB - BACKGROUND: The disease course and long-term outcome of patients with organic acidurias (OAD) and urea cycle disorders (UCD) are incompletely understood.AIMS: To evaluate the complex clinical phenotype of OAD and UCD patients at different ages.RESULTS: Acquired microcephaly and movement disorders were common in OAD and UCD highlighting that the brain is the major organ involved in these diseases. Cardiomyopathy [methylmalonic (MMA) and propionic aciduria (PA)], prolonged QTc interval (PA), optic nerve atrophy [MMA, isovaleric aciduria (IVA)], pancytopenia (PA), and macrocephaly [glutaric aciduria type 1 (GA1)] were exclusively found in OAD patients, whereas hepatic involvement was more frequent in UCD patients, in particular in argininosuccinate lyase (ASL) deficiency. Chronic renal failure was often found in MMA, with highest frequency in mut(0) patients. Unexpectedly, chronic renal failure was also observed in adolescent and adult patients with GA1 and ASL deficiency. It had a similar frequency in patients with or without a movement disorder suggesting different pathophysiology. Thirteen patients (classic OAD: 3, UCD: 10) died during the study interval, ten of them during the initial metabolic crisis in the newborn period. Male patients with late-onset ornithine transcarbamylase deficiency were presumably overrepresented in the study population.CONCLUSIONS: Neurologic impairment is common in OAD and UCD, whereas the involvement of other organs (heart, liver, kidneys, eyes) follows a disease-specific pattern. The identification of unexpected chronic renal failure in GA1 and ASL deficiency emphasizes the importance of a systematic follow-up in patients with rare diseases.

U2 - 10.1007/s10545-015-9840-x

DO - 10.1007/s10545-015-9840-x

M3 - Journal article

C2 - 25875216

SN - 0141-8955

VL - 38

SP - 1059

EP - 1074

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

IS - 6

ER -

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

Abstract

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