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Summary
MITOCHONDRIAL DNA DEPLETION SYNDROME 2
MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) MTDPS2
609560
OMIM = Online Medalian Inheritance of Men
254875
16q21
rare (<1:1000000)
autosomal recessive
symptoms
aminoaciduria, generalized
defect of walking, running, rising or climbing
hypotonia
lactic acidosis
muscle weakness
onset, child
respiratory insufficiency
laboratory finding
Lactate0.000.00 increasedblood
Creatine kinase0.000.00 increasedserumchildhood
Literature
Rasanen Oet al.Fatal familial steatosis of the liver and kidney in two siblingsZ Kinderheilkd1104267-2751971
Tuschl Ket al.Mucopolysaccharidosis type II in females: case report and review of literaturePediatr Neurol324270-2722005
Muenzer Jet al.Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome): a preliminary reportActa Paediatr Suppl91098-992002
Simila Set al.Nonketotic C6-C10-dicarboxylic aciduria presenting as familial hepatic steatosisAm J Med Genet183543-5451984
Segawa MNomura Y, Nishiyama NAutosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease)Ann Neurol Suppl546S32-452003
Pearl PLWallis DD, Gibson KMPediatric neurotransmitter diseasesCurr Neurol Neurosci Rep42147-1522004
Satran Let al.Fatal neonatal heptic steatosis: a new familial disorderJ Pediatr75139-461969