COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10; COXPD10 (MTO1)

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10; COXPD10 (MTO1)?

Accepted Answer

rare (1:5000)
autosomal recessive
mutation in the MTO1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kombinierter OXPHOS [Oxidative Phosphorylierung]-Defekt Typ 10

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 614702

Question 4

Which enzymes are involved?

Accepted Answer

Protein MTO1 homolog, mitochondrial

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10; COXPD10 (MTO1)
Synonym	CARDIOMYOPATHY, INFANTILE HYPERTROPHIC MITOCHONDRIAL, AND LACTIC ACIDOSIS
OMIM	614702 OMIM = Online Mendelian Inheritance of Men
Orphanet	314637
Protein (UniProt)	Protein MTO1 homolog, mitochondrial
Gene locus	6q13
ICD	I42.2
Summary	rare (1:5000) autosomal recessive mutation in the MTO1 gene
Laboratory findings	Alanine inc (plasma) D-Glucose dec (plasma) L-Lactic acid inc (plasma) L-Lactic acid inc (cerebrospinal fluid)
Symptoms	ataxia cardiac arrhythmia, dysrhythmia cardiomyopathy cardiomyopathy, hypertrophic cognitive impairment developmental delay dystonia early death encephalopathy failure to thrive feeding difficulties, poor feeding hepatomegaly (large liver) hypoglycemia hypotonia lactic acidosis liver involvement or dysfunction metabolic acidosis MRI, brain, abnormalities [-] myopathy onset, childhood onset, infancy onset, neonatal ophthalmoplegia optic atrophy ptosis (drooping eyelid) seizures small for gestational age (SGA), intrauterine growth retardation (IUGR) speech development, delayed, abnormal tachypnea, hyperpnea, dyspnea, hyperventilation