Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases

Journal of Human Genetics
Ryosuke BoSeiji Yamaguchi

Abstract

Mitochondrial trifunctional protein (TFP) deficiency is an inherited metabolic disorder of mitochondrial fatty-acid oxidation. Isolated long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is often reported in Caucasian countries due to a common mutation. However, the molecular and clinical basis of complete TFP deficiency has not been extensively reported. In this study, 14 Japanese cases (13 families) with complete TFP deficiency, including 9 previously reported cases, were analyzed to clarify the clinical and molecular characteristics of TFP deficiency. The clinical types of the 14 patients were as follows: 12 cases of neonatal (n=7) or myopathic (n=5) types and 2 cases of intermediate type. Peripheral neuropathy was found in four cases and hypocalcemia due to hypoparathyroidism, which is rarely reported in Caucasian patients, had developed in four cases. Maternal hemolysis, elevated liver enzymes and low platelet count syndrome and acute fatty liver of pregnancy were noted in two and one mothers, respectively. Fourteen mutations were identified in 26 alleles in Japanese patients, including two novel mutations (HADHA: c.361C>T, and HADHA-HADHB: g.26233880_ 26248855del), although no common mutations were found. This study su...Continue Reading

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Citations

Nov 28, 2018·Expert Review of Neurotherapeutics·Josef Finsterer
Apr 8, 2020·Human Genome Variation·Mina NakamaToshiyuki Fukao
Jan 27, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Deborah MarsdenJerry Vockley
Jan 10, 2021·Human Genome Variation·Mina NakamaToshiyuki Fukao
Mar 22, 2021·Molecular Genetics and Metabolism·Robin DagherBenoit J Gentil
Jul 2, 2021·Neuromuscular Disorders : NMD·Andréia CarneiroMarcos Dias Pereira

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