Mitochondrial complex deficiency by novel compound heterozygous TMEM 70 variants and correlation with developmental delay, undescended testicle, and left ventricular noncompaction in a Japanese patient: A case report

We identified novel compound heterozygous TMEM70 variants in a Japanese patient who had hyperlactacidemia, metabolic acidosis, hyperalaninemia, developmental delay, undescended testicle, and left ventricular noncompaction. The urinary organic acids profile revealed elevated levels of 3‐ MGA , and BN...

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Bibliographic Details
Published in:Clinical case reports 2019-03, Vol.7 (3), p.553-557
Main Authors: Hirono, Keiichi, Ichida, Fukiko, Nishio, Natsuhito, Ogawa‐Tominaga, Minako, Fushimi, Takuya, Feichtinger, Rene′ G., Mayr, Johannes A., Kohda, Masakazu, Kishita, Yoshihito, Okazaki, Yasushi, Ohtake, Akira, Murayama, Kei
Format: Article
Language:English
Subjects:
Cardiomyopathy
Case reports
Mitochondria
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Summary:We identified novel compound heterozygous TMEM70 variants in a Japanese patient who had hyperlactacidemia, metabolic acidosis, hyperalaninemia, developmental delay, undescended testicle, and left ventricular noncompaction. The urinary organic acids profile revealed elevated levels of 3‐ MGA , and BN ‐ PAGE /Western blotting analysis and ETC. activity confirmed complex V deficiency.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.2050