GLYCOGEN STORAGE DISEASE TYPE IXd (GSD9D)

Question 1

What is  GLYCOGEN STORAGE DISEASE TYPE IXd (GSD9D)?

Accepted Answer

rare

X-likned rescessive

mutation in the PHKA1 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 300559

Question 3

Which enzymes are involved?

Accepted Answer

Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform

Disease	GLYCOGEN STORAGE DISEASE TYPE IXd (GSD9D)
Synonym	GSD9d; MUSCLE GLYCOGENOSIS, X-LINKED
OMIM	300559 OMIM = Online Mendelian Inheritance of Men
Orphanet	715
Protein (UniProt)	Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform
ExPASy	2.7.11.19
Gene locus	Xq13.1
ICD	E74.0
Summary	rare X-likned rescessive mutation in the PHKA1 gene
Laboratory findings	Creatine kinase inc (serum) Myoglobin inc (urine)
Symptoms	muscle atrophy muscle weakness onset, adolescent onset, childhood pain, muscle