GLYCOGEN STORAGE DISEASE TYPE IXC (GSD9C)

Question 1

What is  GLYCOGEN STORAGE DISEASE TYPE IXC (GSD9C)?

Accepted Answer

rare
autosomal recessive
mutation in the PHKG2 gene
3 types:
- IXa: X-linked recessive
- IXb: autosomal recessive
- IXc: autosomal recessive

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

GSD [Glykogenspeicherkrankheit] Typ 9c; Leberphosphorylasekinasemangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 613027

Question 4

Which enzymes are involved?

Accepted Answer

Phosphorylase b kinase gamma catalytic chain, liver/testis isoform

Disease	GLYCOGEN STORAGE DISEASE TYPE IXC (GSD9C)
Synonym	GSD9c; GLYCOGENOSIS, TYPE IXC
OMIM	613027 OMIM = Online Mendelian Inheritance of Men
Orphanet	264580
Protein (UniProt)	Phosphorylase b kinase gamma catalytic chain, liver/testis isoform
ExPASy	2.7.11.19
Gene locus	16p11.2
ICD	E74.0
Summary	rare autosomal recessive mutation in the PHKG2 gene 3 types: - IXa: X-linked recessive - IXb: autosomal recessive - IXc: autosomal recessive
Laboratory findings	Cholesterol n/i (plasma) Creatine kinase inc (serum) D-Glucose normal/dec (plasma) Ketone bodies (urine) normal/inc (plasma) L-Lactic acid normal/inc (plasma) Phosphorylase kinase dec (heart) Transaminases (ASAT/ALAT) normal/inc (serum) Triglycerides normal/inc (plasma)
Symptoms	cirrhosis or fibrosis of liver early death ECG abnormalities [-] growth retardation, poor growth hepatomegaly (large liver) hypotonia motor retardation onset, childhood onset, infancy onset, neonatal splenomegaly (large spleen)