GLYCOGEN STORAGE DISEASE, TYPE V. McARDLE DISEASE

Question 1

What is  GLYCOGEN STORAGE DISEASE, TYPE V. McARDLE DISEASE?

Accepted Answer

rare (1:1000.000)
autosomal recessive
mutation in the PYGM gene
diagnosis: ammonia, inosine, hypoxanthine and uric acid increase with exercise 31P MRI muscle biopsy

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

GSD [Glykogenspeicherkrankheit] Typ 5; muskulärer Glykogen-Phosphorylase-Mangel; McArdle-Krankheit

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 232600

Question 4

Which enzymes are involved?

Accepted Answer

Glycogen phosphorylase, muscle form

Disease	GLYCOGEN STORAGE DISEASE, TYPE V. McARDLE DISEASE
Synonym	GSD5; GLYCOGEN STORAGE DISEASE V;
OMIM	232600 OMIM = Online Mendelian Inheritance of Men
Orphanet	368
Protein (UniProt)	Glycogen phosphorylase, muscle form
ExPASy	2.4.1.1
Gene locus	11q13.1
ICD	E74.0
Summary	rare (1:1000.000) autosomal recessive mutation in the PYGM gene diagnosis: ammonia, inosine, hypoxanthine and uric acid increase with exercise 31P MRI muscle biopsy
Laboratory findings	Ammonia normal/inc (blood) Creatine kinase inc (serum) Glycogen phosphorylase (muscle ) dec (muscle) Myoglobin normal/inc (urine) Uric acid inc (plasma)
Symptoms	exertion intolerance brown colored urine decreased muscle volume, atrophy or hypoplasia dysphagia exercise intolerance fatigue, severe or unusual hyperammonemia MRI, muscle, abnormalities [-] muscle cramps muscle weakness muscular rigidity myopathy onset, adolescent onset, childhood pain, muscle rhabdomyolysis urine color, abnormal