PET117 CYTOCHROME c OXIDASE CHAPERONE; PET117

mutations in PET117 as a novel cause of mitochondrial disease [Renkema GH 2017]

Question 1

What is  PET117 CYTOCHROME c OXIDASE CHAPERONE; PET117?

Accepted Answer

mutations in PET117 as a novel cause of mitochondrial disease [Renkema GH 2017]

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 614771

Question 3

Which enzymes are involved?

Accepted Answer

Protein PET117 homolog, mitochondrial

Disease	PET117 CYTOCHROME c OXIDASE CHAPERONE; PET117
OMIM	614771 OMIM = Online Mendelian Inheritance of Men
Protein (UniProt)	Protein PET117 homolog, mitochondrial
Gene locus	20p11.23
ICD
Summary	mutations in PET117 as a novel cause of mitochondrial disease [Renkema GH 2017]
Laboratory findings	Creatine normal/inc (urine) Creatine inc (plasma) D-Lactic acid inc (blood) Glycine inc (plasma) Guanidinoacetic acid / Guanidinoacetate inc (plasma) Guanidinoacetic acid / Guanidinoacetate normal/inc (urine)
Symptoms	hypokinesia motor retardation MRI, brain, abnormalities [-] onset, adolescent onset, childhood pyramidal signs speech development, delayed, abnormal