What is MITOCHONDRIAL DNA DEPLETION SYNDROME 5?

rare (1:1700 Faroe Islands) autosomal recessive mutation in the beta subunit of the succinate-CoA ligase gene (SUCLA2)

Gibt es eine deutsche Bezeichnung?

Mitochondriales DNA-Depletionssyndrom, enzephalomyopathische Form mit Methylmalonazidurie; MTDPS5

Which enzymes are involved?

Succinyl-CoA ligase [ADP-forming] subunit beta, mitochondrial

MITOCHONDRIAL DNA DEPLETION SYNDROME 5

Disease	MITOCHONDRIAL DNA DEPLETION SYNDROME 5
Synonym	ENCEPHALOMYOPATHIC FORM, WITH OR WITHOUT METHYLMALONIC ACIDURIA; SUCLA2 Deficiency
OMIM	612073 OMIM = Online Mendelian Inheritance of Men
Orphanet	1933
Protein (UniProt)	Succinyl-CoA ligase [ADP-forming] subunit beta, mitochondrial
ExPASy	6.2.1.5
Gene locus	13q14.2
ICD	G71.3
Summary	rare (1:1700 Faroe Islands) autosomal recessive mutation in the beta subunit of the succinate-CoA ligase gene (SUCLA2)
Laboratory findings	3-Methylglutaconic acid inc (urine) Methylmalonic acid inc (urine) 3-Hydroxyisovaleric acid normal/inc (urine) Creatine kinase inc (plasma) L-Lactic acid inc (cerebrospinal fluid) L-Lactic acid inc (plasma) Lactate/Pyruvate ratio inc (blood) Methylcitric acid normal/inc (urine) Methylmalonic acid inc (plasma) Succinic acid inc (urine)
Symptoms	lactic acidosis abnormal movement Amino acids, urine basal ganglia, changes, lesions, calcifications (MRI, CT) cerebral atrophy chorea or athetosis contractures, joints defect of walking, running, rising or climbing developmental delay dystonia encephalopathy failure to thrive feeding difficulties, poor feeding growth retardation, poor growth hearing defect, deafness hyporeflexia hypotonia irritability mental retardation motor retardation movement disorder, hyperkinetic MRI, brain, abnormalities [-] muscle atrophy muscle weakness onset, infancy onset, neonatal ophthalmoplegia peripheral neuropathy psychomotor retardation ptosis (drooping eyelid) respiratory insufficiency seizures skoliosis, kyphoskoliosis strabismus tubulopathy