GLYCOGEN STORAGE DISEASE TYPE VIII - TYPE IX

Question 1

What is  GLYCOGEN STORAGE DISEASE TYPE VIII -> TYPE IX?

Accepted Answer

rare
X-linked recessive
PHKA2 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

GSD [Glykogenspeicherkrankheit] Typ 8 -> GSD [Glykogenspeicherkrankheit] Typ 9

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 306000

Question 4

Which enzymes are involved?

Accepted Answer

Phosphorylase kinase

Disease	GLYCOGEN STORAGE DISEASE TYPE VIII -> TYPE IX
Synonym	GSD8; GLYCOGEN STORAGE DISEASE VIII -> GSD9
OMIM	306000 OMIM = Online Mendelian Inheritance of Men
Orphanet	370
Protein (UniProt)	Phosphorylase kinase
ExPASy	2.7.11.19
Gene locus	Xp22.13 Detail information to gene locus by the National Center for Biotechnology Information NCBI: Phosphorylase kinase deficiency, liver (glycogen storage disease type VIII)
ICD	E74.0
Summary	rare X-linked recessive PHKA2 gene
Laboratory findings	Creatine kinase inc (serum) Myoglobin inc (urine)
Symptoms	brown colored urine fatigue, severe or unusual muscle weakness onset, adulthood pain, muscle rhabdomyolysis urine color, abnormal