GLYCOGEN STORAGE DISEASE TYPE III. FORBES DISEASE, CORI DISEASE

Question 1

What is  GLYCOGEN STORAGE DISEASE TYPE III. FORBES DISEASE, CORI DISEASE?

Accepted Answer

rare (1:125000, Israel 1:5420)
autosomal recessive
2 types:
- IIIa: liver and muscle involvement, almost indistinguishable from GSD I in infancy
- IIIb: only liver involvement (15%)

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

GSD [Glykogenspeicherkrankheit] Typ 3; Amylo-1,6-Glukosidase-Mangel; Cori-Forbes-Krankheit

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 232400

Question 4

Which enzymes are involved?

Accepted Answer

Glycogen debranching enzyme

Disease	GLYCOGEN STORAGE DISEASE TYPE III. FORBES DISEASE, CORI DISEASE
Synonym	GSD3; FORBES DISEASE, CORI DISEASE, DEBRANCHER GLYCOGENOSIS
OMIM	232400 OMIM = Online Mendelian Inheritance of Men
Orphanet	366
Protein (UniProt)	Glycogen debranching enzyme
ExPASy	3.2.1.33
Gene locus	1p21.2
ICD	E74.0
Summary	rare (1:125000, Israel 1:5420) autosomal recessive 2 types: - IIIa: liver and muscle involvement, almost indistinguishable from GSD I in infancy - IIIb: only liver involvement (15%)
Laboratory findings	L-Lactic acid normal (plasma) Transaminases (ASAT/ALAT) normal/inc (serum) Amylo-1,6-glucosidase dec (liver) Amylo-1,6-glucosidase dec (muscle) Cholesterol inc (plasma) Creatine kinase normal/inc (serum) D-Glucose normal/dec (serum) Glycogen inc (liver) Ketone bodies (urine) inc (urine) Triglycerides inc (serum) Uric acid normal/inc (serum)
Symptoms	adiposity cardiomyopathy cardiomyopathy, hypertrophic cirrhosis or fibrosis of liver hepatomegaly (large liver) hypoglycemia liver involvement or dysfunction muscle weakness myopathy osteopenia short stature ECG abnormalities [-] EMG abnormalities [-] growth retardation, poor growth hypotonia ketosis, ketoacidosis liver carcinoma onset, adolescent onset, childhood onset, infancy progressive muscle defect seizures