MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA); MTDPS9; SUCGL1

Question 1

What is  MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA); MTDPS9; SUCGL1?

Accepted Answer

rare
autosomal recessive
mutation in the alpha subunit of the succinate-CoA ligase gene (SUCLG1)

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Fatale infantile Laktatazidose mit Methylmalonazidurie; MTDPS9

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 245400

Question 4

Which enzymes are involved?

Accepted Answer

Succinyl-CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial

Disease	MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA); MTDPS9; SUCGL1
Synonym	CONGENITAL LACTIC ACIDOSIS
OMIM	245400 OMIM = Online Mendelian Inheritance of Men
Orphanet	17
Protein (UniProt)	Succinyl-CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial
ExPASy	6.2.1.4
Gene locus	2p11.2
ICD	E71.1
Summary	rare autosomal recessive mutation in the alpha subunit of the succinate-CoA ligase gene (SUCLG1)
Laboratory findings	D-Glucose normal/dec (serum) L-Lactic acid inc (blood) L-Lactic acid inc (cerebrospinal fluid) Lactate/Pyruvate ratio inc (urine) Methylmalonic acid inc (urine) Methylmalonylcarnitine (C4-DC) inc (urine) Pyruvic acid inc (blood) Succinylcarnitine (C4-DC) inc (urine)
Symptoms	hypoglycemia lactic acidosis ataxia cerebral atrophy dystonia early death encephalopathy failure to thrive hearing defect, deafness hypotonia Leigh syndrome liver involvement or dysfunction mental retardation metabolic acidosis motor retardation neurological deterioration onset, infancy peripheral neuropathy psychomotor retardation pyramidal signs respiratory insufficiency seizures tachypnea, hyperpnea, dyspnea, hyperventilation