GLYCOGEN STORAGE DISEASE TYPE XII

Question 1

What is  GLYCOGEN STORAGE DISEASE TYPE XII?

Accepted Answer

rare
autosomal recessive
mutation in the ALDOA gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

GSD [Glykogenspeicherkrankheit] Typ 12; Aldolase A-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 611881

Question 4

Which enzymes are involved?

Accepted Answer

Fructose-bisphosphate aldolase A

Disease	GLYCOGEN STORAGE DISEASE TYPE XII
Synonym	GSD12;
OMIM	611881 OMIM = Online Mendelian Inheritance of Men
Orphanet	57
Protein (UniProt)	Fructose-bisphosphate aldolase A
Gene locus	16p11.2
ICD	E74.0
Summary	rare autosomal recessive mutation in the ALDOA gene
Laboratory findings	Bilirubin inc (plasma) Creatine kinase inc (plasma) Glycogen inc (tissue) Glycogen normal/inc (liver)
Symptoms	anemia dysmorphism jaundice mental retardation muscle weakness myopathy onset, childhood onset, infancy onset, neonatal ptosis (drooping eyelid) puberty, delayed or missing short stature splenomegaly (large spleen)