What is MITOCHONDRIAL COMPLEX IV DEFICIENCY?

rare autosomal recessive mitochondrial Mutations in several mitochondrial COX genes

Gibt es eine deutsche Bezeichnung?

Isolierter Atmungskettendefekt im Komplex IV; Cytochrom-C-Oxidase-Mangel, isolierter

Disease	MITOCHONDRIAL COMPLEX IV DEFICIENCY
Synonym	CYTOCHROME c OXIDASE DEFICIENCY
OMIM	220110 OMIM = Online Mendelian Inheritance of Men
Orphanet	254905
Protein (UniProt)	cytochrome c oxidase
ExPASy	1.9.3.1
Gene locus	mutations in more than 30 genes
ICD	E88.8
Summary	rare autosomal recessive mitochondrial Mutations in several mitochondrial COX genes
Laboratory findings	Ketone bodies (urine) inc (urine) L-Lactic acid normal/inc (cerebrospinal fluid) L-Lactic acid inc (urine) L-Lactic acid normal/inc (blood) pH dec (blood)
Symptoms	epilepsy muscle weakness renal failure, acute/chronic anemia ataxia basal ganglia, changes, lesions, calcifications (MRI, CT) cardiomegaly cardiomyopathy cardiomyopathy, hypertrophic dyspnea early death encephalopathy failure to thrive Fanconi syndrome feeding difficulties, poor feeding hearing defect, deafness hepatomegaly (large liver) hypotonia ketosis, ketoacidosis lactic acidosis limb abnormalities, limb deformities liver involvement or dysfunction mental retardation motor retardation myopathy neurological deterioration onset, neonatal poor crying ptosis (drooping eyelid) respiratory insufficiency screaming or crying, abnormal seizures swallowing difficulties tubulopathy