GLYCOGEN STORAGE DISEASE TYPE IXB (GSD9B)

Question 1

What is  GLYCOGEN STORAGE DISEASE TYPE IXB (GSD9B)?

Accepted Answer

rare
autosomal recessive
3 types:
- IXa: X-linked recessive
- IXb: autosomal recessive
- IXc: autosomal recessive

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

GSD [Glykogenspeicherkrankheit] Typ 9b; Phosphorylasekinase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 261750

Question 4

Which enzymes are involved?

Accepted Answer

Phosphorylase b kinase regulatory subunit beta

Disease	GLYCOGEN STORAGE DISEASE TYPE IXB (GSD9B)
Synonym	GSD9b; PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE; GLYCOGENOSIS, TYPE IXB
OMIM	261750 OMIM = Online Mendelian Inheritance of Men
Orphanet	370
Protein (UniProt)	Phosphorylase b kinase regulatory subunit beta
Gene locus	16q12.1
ICD	E74.0
Summary	rare autosomal recessive 3 types: - IXa: X-linked recessive - IXb: autosomal recessive - IXc: autosomal recessive
Laboratory findings	Cholesterol n/i (plasma) Phosphorylase kinase dec (liver) Phosphorylase kinase dec (muscle) Transaminases (ASAT/ALAT) inc (serum) Triglycerides inc (serum)
Symptoms	adiposity facies, cherubic (dolls face) hepatomegaly (large liver) hypoglycemia cardiomyopathy cardiomyopathy, hypertrophic diarrhea growth retardation, poor growth hypotonia muscle weakness no clinical symptoms (probably) onset, infancy short stature