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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, childhood
respiratory insufficiency
laboratory finding
L-Lactic acid0.000.00 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