| HEMOCHROMATOSIS, NEONATAL | |
| GIANT CELL HEPATITIS, NEONATAL | |
|
231100
OMIM = Online Mendelian Inheritance of Men | |
|
446 | |
| 8q21.3 |
|
| E83.1 | |
| rare autosomal recessive Gestational alloimmune liver disease (GALD) has been established as the cause of fetal liver injury resulting in nearly all cases of NH [Feldmann AG 2013] | |
| Laboratory findings | Albumin dec (serum) D-Glucose dec (blood) D-Lactic acid normal/inc (blood) Ferritin inc (serum) Hemoglobine dec (blood) Iron inc (liver) L-Tyrosine normal/inc (plasma) Methionine normal/inc (plasma) Protein, total dec (serum) |
| Symptoms | anemia ascites bleeding tendencies, hemorrhages cholestasis cirrhosis or fibrosis of liver Coagulopathy/Coagulation factors Coagulopathy/Coagulation factors early death encephalopathy hydrops fetalis hypoglycemia jaundice lactic acidosis liver failure liver involvement or dysfunction MRI, liver, abnormalities [-] oligohydramnion (maternal) onset, fetus onset, infancy onset, neonatal pleural effusions polyhydramnion (maternal) small for gestational age (SGA), intrauterine growth retardation (IUGR) thrombopenia, thrombocytopenia |