Reply to the correspondence letter by J. Finsterer and S. Zarrouk-Mahjoub “Noncompaction in mitochondrial trifunctional protein deficiency due to a HADHB mutation”
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چکیده
منابع مشابه
Reply to letter from J. Finsterer and S. Zarrouk-Mahjoub
We thank Dr. Finsterer and Dr. Zarrouk-Mahjoub for their comments, in which they argue for further neurological workup of the present case [1]. We agree that neurological assessment is an integral part of the multidisciplinary approach to patients presenting with syncope. However, the authors neglect the fact that our patient was only referred after neurological investigations, which yielded no...
متن کاملMitochondrial trifunctional protein deficiency due to HADHB gene mutation in a Chinese family☆
We report an 8-year-old girl with lower limb weakness since birth in whom mitochondrial trifunctional protein (MTP) deficiency, an autosomal recessive fatty acid oxidation disorder caused by HADHA or HADHB mutations, had not been definitively diagnosed before she was referred to our hospital. Repeated blood acylcarnitine analysis revealed slightly increased long-chain 3-OH-acylcarnitine levels;...
متن کاملResponse to the Letter to the Editor by Finsterer and Zarrouk-Mahjoub in Clin Nephrol Case Stud. 2018; 6: 1.
Not available.
متن کامل[Mitochondrial trifunctional protein deficiency].
We examined the enzyme protein and biosynthesis of human trifunctional protein harboring enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase, and 3-ketoacyl-CoA thiolase activity in cultured skin fibroblasts from two patients with longchain 3-hydroxyacyl-CoA dehydrogenase deficiency. The following results were obtained. (a) In cells from patient 1, immunoblot analysis and pulse-chase experimen...
متن کاملMolecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations.
The mitochondrial trifunctional protein (TFP) is a multienzyme complex of the fatty acid beta-oxidation cycle. It is composed of four alpha-subunits (HADHA) harboring long-chain enoyl-CoA hydratase and long-chain L-3-hydroxyacyl-CoA dehydrogenase (LCHAD) and four beta-subunits (HADHB) harboring long-chain 3-ketoacyl-CoA thiolase (LKAT). Mutations in either subunit can result in TFP deficiency w...
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ژورنال
عنوان ژورنال: European Journal of Pediatrics
سال: 2015
ISSN: 0340-6199,1432-1076
DOI: 10.1007/s00431-015-2600-y