1.
Genet Couns
; 27(4): 509-512, 2016.
Article
in English
| MEDLINE
| ID: mdl-30226971
ABSTRACT
GRACILE Syndrome, is an autosomal recessive disease presenting with growth retardation, severe lactic acidosis, Fanconi type tubulopathy, cholestasis, iron overload and early death without any dysmorphological or neurological features. The BCSIL gene mutation is responsible for GRACILE syndrome, Bjornstad syndrome and complex III deficiency. Bjomstad syndrome is characterized by sensorineural hearing loss and abnormal flat twisted hair shafts. The case is GRACILE syndrome with Bjomstad phenotype in neonatal period due to BCSL1 gene mutation.
Subject(s)
ATPases Associated with Diverse Cellular Activities/genetics , Acidosis, Lactic/genetics , Cholestasis/genetics , DNA Mutational Analysis , Electron Transport Complex III/genetics , Fetal Growth Retardation/genetics , Hair Diseases/genetics , Hearing Loss, Sensorineural/genetics , Hemosiderosis/genetics , Metabolism, Inborn Errors/genetics , Mitochondrial Diseases/congenital , Phenotype , Renal Aminoacidurias/genetics , Acidosis/diagnosis , Acidosis/genetics , Acidosis, Lactic/diagnosis , Cholestasis/diagnosis , Consanguinity , Fatal Outcome , Fetal Growth Retardation/diagnosis , Hair Diseases/diagnosis , Hearing Loss, Sensorineural/diagnosis , Hemosiderosis/diagnosis , Homozygote , Humans , Infant , Infant, Newborn , Male , Metabolism, Inborn Errors/diagnosis , Mitochondrial Diseases/diagnosis , Mitochondrial Diseases/genetics , Renal Aminoacidurias/diagnosis , Turkey
2.
Genet Couns
; 25(3): 331-5, 2014.
Article
in English
| MEDLINE
| ID: mdl-25365856