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Summary
PET117 CYTOCHROME c OXIDASE CHAPERONE PET117
614771
OMIM = Online Medalian Inheritance of Men
20p11.23
mutations in PET117 as a novel cause of mitochondrial disease [Renkema GH 2017]
symptoms
hypokinesia
motor retardation
onset, adolescent
onset, childhood
pyramidal signs
speech development, delayed, abnormal
laboratory finding
Glycine +€mol/lplasma
Creatine +€mol/lplasma
Guanidinoacetic acid / Guanidinoacetate +€mol/lplasma
MRI, brain, abnormalities -
Creatine mmol/mol Creaurine
Guanidinoacetic acid / Guanidinoacetate mmol/mol Creaurine
D-Lactic acid 3.00 mmol/lblood
Literature
Carmel RR-binder deficiency. A clinically benign cause of cobalamin pseudodeficiencyJAMA250141886-18901983