GLYCOGEN STORAGE DISEASE TYPE IXA (GSD9A)

Question 1

What is  GLYCOGEN STORAGE DISEASE TYPE IXA (GSD9A)?

Accepted Answer

rare
X-linked 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 9a; Glykogenose durch Leberphosphorylasekinasemangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 306000

Question 4

Which enzymes are involved?

Accepted Answer

Phosphorylase b kinase regulatory subunit alpha, liver isoform

Disease	GLYCOGEN STORAGE DISEASE TYPE IXA (GSD9A)
Synonym	GSD9a; GLYCOGEN STORAGE DISEASE VIII; GLYCOGENOSIS, TYPE IXA
OMIM	306000 OMIM = Online Mendelian Inheritance of Men
Orphanet	264580
Protein (UniProt)	Phosphorylase b kinase regulatory subunit alpha, liver isoform
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 3 types: - IXa: X-linked recessive - IXb: autosomal recessive - IXc: autosomal recessive
Laboratory findings	Cholesterol n/i (plasma) D-Glucose normal/dec (plasma) Ketone bodies (urine) inc (urine) Phosphorylase kinase dec (liver) Transaminases (ASAT/ALAT) inc (serum) Triglycerides normal/inc (serum) Uric acid inc (serum)
Symptoms	adiposity growth retardation, poor growth hepatomegaly (large liver) hypoglycemia ketosis, ketoacidosis onset, infancy prominent abdomen short stature