| GLYCOGEN STORAGE DISEASE TYPE IV. ANDERSEN DISEASE | |
| GSD4; ANDERSON DISEASE; AMYLOPECTINOSIS; | |
|
232500
OMIM = Online Mendelian Inheritance of Men | |
|
367 | |
| 1,4-alpha-glucan-branching enzyme | |
| 2.4.1.18 | |
| rare (1:1000.000) autosomal recessive hypoglycemia is a rare finding Glycogenosis type IV does not always necessitate hepatic transplantation (McConkie-Rosell, 1996) | |
| Laboratory findings | Glycogen inc (liver) Bilirubin normal/inc (plasma) Transaminases (ASAT/ALAT) normal/inc (serum) alpha-1,4 Glucan-6-alpha-glucosyltransferase dec (leucocytes) alpha-1,4 Glucan-6-alpha-glucosyltransferase dec (liver) alpha-1,4 Glucan-6-alpha-glucosyltransferase dec (fibroblasts) alpha-1,4 Glucan-6-alpha-glucosyltransferase dec (erythrocytes) alpha-1,4 Glucan-6-alpha-glucosyltransferase dec (muscle) Chitotriosidase inc (plasma) D-Glucose normal/dec (blood) N-carbamyl-β-aminoisobutyric acid dec (liver) |
| Symptoms | cardiomyopathy cardiomyopathy, hypertrophic cirrhosis or fibrosis of liver Coagulopathy/Coagulation factors early death failure to thrive hepatomegaly (large liver) hypotonia liver involvement or dysfunction muscle atrophy muscle weakness splenomegaly (large spleen) arthrogryposis ascites cardiomegaly diarrhea fetal akinesia/hypokinesia sequence hypoglycemia jaundice limb abnormalities, limb deformities liver failure motor retardation myopathy onset, childhood onset, fetus onset, infancy onset, neonatal polyhydramnion (maternal) pulmonary hypoplasia |