MITOCHONDRIAL COMPLEX II DEFICIENCY

rare (<1:1000.000) autosomal recessive mutation in the nuclear-encoded - SDHA (600857) - SDHD (602690) - SDFHAF1 (612848)

Isolierter Atmungskettendefekt im Komplex II; Succinat-Coenzym-Q-Reduktase-Mangel, isolierter

Question 1

What is  MITOCHONDRIAL COMPLEX II DEFICIENCY?

Accepted Answer

rare (<1:1000.000)

autosomal recessive

mutation in the nuclear-encoded

- SDHA (600857)

- SDHD (602690)

- SDFHAF1 (612848)

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Isolierter Atmungskettendefekt im Komplex II; Succinat-Coenzym-Q-Reduktase-Mangel, isolierter

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 252011

Question 4

Which enzymes are involved?

Accepted Answer

succinate dehydrogenase

Disease	MITOCHONDRIAL COMPLEX II DEFICIENCY
Synonym	SUCCINATE CoQ REDUCTASE DEFICIENCY
OMIM	252011 OMIM = Online Mendelian Inheritance of Men
Orphanet	3208
Protein (UniProt)	succinate dehydrogenase
ExPASy	1.3.5.1
Gene locus	5p15.33, 11q23.1, 19q13.12
ICD	G71.3
Summary	rare (<1:1000.000) autosomal recessive mutation in the nuclear-encoded - SDHA (600857) - SDHD (602690) - SDFHAF1 (612848)
Laboratory findings	L-Lactic acid inc (plasma)
Symptoms	ataxia cardiomyopathy cardiomyopathy, dilated cardiomyopathy, hypertrophic cardiomyopathy, mixed type cardiomyopathy, noncompaction dystonia early death encephalopathy exercise intolerance hypotonia lactic acidosis leukoencephalopathy mental retardation motor retardation muscle weakness myoclonus myopathy nystagmus onset, infancy onset, neonatal seizures short stature