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Published in: European Journal of Pediatrics 12/2015

01-12-2015 | Correspondence

Noncompaction in mitochondrial trifunctional protein deficiency due to a HADHB mutation

Authors: Josef Finsterer, Sinda Zarrouk-Majoub

Published in: European Journal of Pediatrics | Issue 12/2015

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Excerpt

The interesting report about a family with mitochondrial trifunctional protein (TFP) deficiency due to a novel mutation in the HADHB gene associated with left ventricular hypertrabeculation/noncompaction (LVHT) by Ojala et al. [7] raises the following concerns: …
Literature
1.
go back to reference Diekman EF, Boelen CC, Prinsen BH, Ijlst L, Duran M, de Koning TJ, Waterham HR, Wanders RJ, Wijburg FA, Visser G (2013) Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency. JIMD Rep 7:1–6PubMedCentralCrossRefPubMed Diekman EF, Boelen CC, Prinsen BH, Ijlst L, Duran M, de Koning TJ, Waterham HR, Wanders RJ, Wijburg FA, Visser G (2013) Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency. JIMD Rep 7:1–6PubMedCentralCrossRefPubMed
2.
go back to reference Finsterer J, Stöllberger C, Blazek G, Sehnal E (2013) Familal left ventricular hypertrabeculation (noncompaction) is myopathic. Int J Cardiol 164:312–7CrossRefPubMed Finsterer J, Stöllberger C, Blazek G, Sehnal E (2013) Familal left ventricular hypertrabeculation (noncompaction) is myopathic. Int J Cardiol 164:312–7CrossRefPubMed
3.
go back to reference Finsterer J, Stöllberger C, Schubert B (2008) Acquired left ventricular noncompaction as a cardiac manifestation of neuromuscular disorders. Scand Cardiovasc J 42:25–30CrossRefPubMed Finsterer J, Stöllberger C, Schubert B (2008) Acquired left ventricular noncompaction as a cardiac manifestation of neuromuscular disorders. Scand Cardiovasc J 42:25–30CrossRefPubMed
4.
go back to reference Fletcher AL, Pennesi ME, Harding CO, Weleber RG, Gillingham MB (2012) Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies. Mol Genet Metab 106:18–24PubMedCentralCrossRefPubMed Fletcher AL, Pennesi ME, Harding CO, Weleber RG, Gillingham MB (2012) Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies. Mol Genet Metab 106:18–24PubMedCentralCrossRefPubMed
5.
go back to reference Keller MD, Ganesh J, Heltzer M, Paessler M, Bergqvist AG, Baluarte HJ, Watkins D, Rosenblatt DS, Orange JS (2013) Severe combined immunodeficiency resulting from mutations in MTHFD1. Pediatrics 131:e629–34CrossRefPubMed Keller MD, Ganesh J, Heltzer M, Paessler M, Bergqvist AG, Baluarte HJ, Watkins D, Rosenblatt DS, Orange JS (2013) Severe combined immunodeficiency resulting from mutations in MTHFD1. Pediatrics 131:e629–34CrossRefPubMed
6.
go back to reference Kobayashi T, Minami S, Mitani A, Tanizaki Y, Booka M, Okutani T, Yamaguchi S, Ino K (2015) Acute fatty liver of pregnancy associated with fetal mitochondrial trifunctional protein deficiency. J Obstet Gynaecol Res 41:799–802CrossRefPubMed Kobayashi T, Minami S, Mitani A, Tanizaki Y, Booka M, Okutani T, Yamaguchi S, Ino K (2015) Acute fatty liver of pregnancy associated with fetal mitochondrial trifunctional protein deficiency. J Obstet Gynaecol Res 41:799–802CrossRefPubMed
7.
go back to reference Ojala T, Nupponen I, Saloranta C, Sarkola T, Sekar P, Breilin A, Tyni T Fetal left ventricular noncompaction cardiomyopathy and fatal outcome due to complete deficiency of mitochondrial trifunctional protein. Eur J Pediatr, 2015 Jun 13. [Epub ahead of print] PubMed PMID: 26070998 Ojala T, Nupponen I, Saloranta C, Sarkola T, Sekar P, Breilin A, Tyni T Fetal left ventricular noncompaction cardiomyopathy and fatal outcome due to complete deficiency of mitochondrial trifunctional protein. Eur J Pediatr, 2015 Jun 13. [Epub ahead of print] PubMed PMID: 26070998
8.
go back to reference Orii KE, Aoyama T, Wakui K, Fukushima Y, Miyajima H, Yamaguchi S, Orii T, Kondo N, Hashimoto T (1997) Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency. Hum Mol Genet 6:1215–24CrossRefPubMed Orii KE, Aoyama T, Wakui K, Fukushima Y, Miyajima H, Yamaguchi S, Orii T, Kondo N, Hashimoto T (1997) Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency. Hum Mol Genet 6:1215–24CrossRefPubMed
9.
go back to reference Park HD, Kim SR, Ki CS, Lee SY, Chang YS, Jin DK, Park WS (2009) Two novel HADHB gene mutations in a Korean patient with mitochondrial trifunctional protein deficiency. Ann Clin Lab Sci 39:399–404PubMed Park HD, Kim SR, Ki CS, Lee SY, Chang YS, Jin DK, Park WS (2009) Two novel HADHB gene mutations in a Korean patient with mitochondrial trifunctional protein deficiency. Ann Clin Lab Sci 39:399–404PubMed
10.
go back to reference Spiekerkoetter U, Sun B, Khuchua Z, Bennett MJ, Strauss AW (2003) Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations. Hum Mutat 21:598–607CrossRefPubMed Spiekerkoetter U, Sun B, Khuchua Z, Bennett MJ, Strauss AW (2003) Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations. Hum Mutat 21:598–607CrossRefPubMed
11.
go back to reference Terrone G, Ruoppolo M, Brunetti-Pierri N, Cozzolino C, Scolamiero E, Parenti G, Romano A, Andria G, Salvatore F, Frisso G (2014) Child neurology: recurrent rhabdomyolysis due to a fatty acid oxidation disorder. Neurology 82:e1–4CrossRefPubMed Terrone G, Ruoppolo M, Brunetti-Pierri N, Cozzolino C, Scolamiero E, Parenti G, Romano A, Andria G, Salvatore F, Frisso G (2014) Child neurology: recurrent rhabdomyolysis due to a fatty acid oxidation disorder. Neurology 82:e1–4CrossRefPubMed
12.
go back to reference Yagi M, Lee T, Awano H, Tsuji M, Tajima G, Kobayashi H, Hasegawa Y, Yamaguchi S, Takeshima Y, Matsuo M (2011) A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence. Mol Genet Metab 104:556–9CrossRefPubMed Yagi M, Lee T, Awano H, Tsuji M, Tajima G, Kobayashi H, Hasegawa Y, Yamaguchi S, Takeshima Y, Matsuo M (2011) A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence. Mol Genet Metab 104:556–9CrossRefPubMed
Metadata
Title
Noncompaction in mitochondrial trifunctional protein deficiency due to a HADHB mutation
Authors
Josef Finsterer
Sinda Zarrouk-Majoub
Publication date
01-12-2015
Publisher
Springer Berlin Heidelberg
Published in
European Journal of Pediatrics / Issue 12/2015
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI
https://doi.org/10.1007/s00431-015-2598-1

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