GLYCOGEN STORAGE DISEASE TYPE XI

Question 1

What is  GLYCOGEN STORAGE DISEASE TYPE XI?

Accepted Answer

rare
autosomal recessive
mutation in the LDHA gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

GSD [Glykogenspeicherkrankheit] Typ 11; Laktatdehydrogenase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 612933

Question 4

Which enzymes are involved?

Accepted Answer

L-lactate dehydrogenase A chain

Disease	GLYCOGEN STORAGE DISEASE TYPE XI
Synonym	GSD11
OMIM	612933 OMIM = Online Mendelian Inheritance of Men
Orphanet	2364
Protein (UniProt)	L-lactate dehydrogenase A chain
Gene locus	11p15.1
ICD	E74.4
Summary	rare autosomal recessive mutation in the LDHA gene
Laboratory findings	Creatine kinase inc (plasma) Glycogen normal/inc (muscle) L-Lactic acid inc (plasma) Lactate dehydrogenase (LDH) dec (muscle) Myoglobin normal/inc (urine) Pyruvic acid inc (serum)
Symptoms	exertion intolerance lactic acidosis muscle cramps muscle stiffness muscle weakness onset, childhood pain, muscle renal failure, acute/chronic rhabdomyolysis skin defects skin rash, eczematous or seborrhoic