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Summary
PULMONARY HEMOSIDEROSIS
IPH IDIOPATHIC PULMONARY HEMOSIDEROSIS
178550
OMIM = Online Medalian Inheritance of Men
99931
rare
autosomal dominant
symptoms
anemia
bleeding tendencies, hemorrhages
growth retardation
hemoptysis
onset, childhood
pulmonary hemorrhage (bleeding)
respiratory insufficiency
laboratory finding
Iron decreasedserum
Ferritin normal-decreasedplasma
Hemoglobine decreasedblood
Computerized tomography (CT) abnormalchest
Literature
Carrozzo R,et al.Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patientsJ Inherit Metab Dis392243-2522016
Carrozzo R,et al.Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patientsJ Inherit Metab Dis392243-2522016
Rouzier C,et al.The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 proteinJ Med Genet4710670-6762010
Sakamoto O,et al.Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 genePediatr Int536921-9252011
Liu Y,et al.Five novel SUCLG1 mutations in three Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduriaBrain Dev38161-672016
Ostergaard E,et al.A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduriaEur J Pediatr1692201-2052010