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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, poor growth
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