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Summary
CONGENITAL LACTIC ACIDOSIS
LACTIC ACIDOSIS, CONGENITAL INFANTILMITOCHONDRIAL DNA DEPLETION SYNDROME 9 SUCLG1
245400
OMIM = Online Medalian Inheritance of Men
17
2p11.2
rare
autosomal recessive
symptoms
ataxia
cerebral atrophy
dystonia
early death
encephalopathy
failure to thrive
hypoglycemia
hypotonia
lactic acidosis
mental retardation
metabolic acidosis
motor retardation
onset, infancy
respiratory insufficiency
seizures
tachypnea, hyperpnea, dyspnea, respiratory distress
laboratory finding
L-Lactic acid 0.901.80increasedblood
Pyruvic acid 27.00160.00increasedblood
Methylmalonic acid0.000.00 increasedurine
L-Lactic acid0.000.00 increasedcerebrospinal fluid
Literature
Dinopoulos Aet al.Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adultsNeurology6471255-12572005
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Nakai Tet al.Structure of P-protein of the glycine cleavage system: implications for nonketotic hyperglycinemiaEMBO J2481523-15362005
Dancis JHutzler J, Cox RPFamilial hyperlysinemia: enzyme studies, diagnostic methods, comments on terminologyAm J Hum Genet313290-2991979
Markovitz PJChuang DT, Cox RPFamilial hyperlysinemias. Purification and characterization of the bifunctional aminoadipic semialdehyde synthase with lysine-ketoglutarate reductase and saccharopine dehydrogenase activitiesJ Biol Chem2591911643-61984
Hoover-Fong JEet al.Natural history of nonketotic hyperglycinemia in 65 patientsNeurology63101847-18532004