COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35; COXPD35

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35; COXPD35?

Accepted Answer

very rare

autosonmal recessive

mutation in the TRIT1 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 617873

Question 3

Which enzymes are involved?

Accepted Answer

tRNA dimethylallyltransferase

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35; COXPD35
OMIM	617873 OMIM = Online Mendelian Inheritance of Men
Protein (UniProt)	tRNA dimethylallyltransferase
ExPASy	2.5.1.75
Gene locus	1p34.2
ICD
Summary	very rare autosonmal recessive mutation in the TRIT1 gene
Laboratory findings
Symptoms	cerebral atrophy congenital heart defect developmental delay dystonia EEG abnormalities [-] encephalopathy failure to thrive hypertonia, spasticity hypotonia intellectual disability/intellectual developmental disorder microcephaly (<2 SD for age) MRI, brain, abnormalities [-] myopia onset, infancy seizures speech development, delayed, abnormal