GLYCOGEN STORAGE DISEASE TYPE VII. TARUI DISEASE

Question 1

What is  GLYCOGEN STORAGE DISEASE TYPE VII. TARUI DISEASE?

Accepted Answer

rare (1:1000.000)
autosomal recessive
mutation in the PFKM gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

GSD [Glykogenspeicherkrankheit] Typ 7; muskulären Phosphofructokinase-Mangel; Tarui-Krankheit

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 232800

Question 4

Which enzymes are involved?

Accepted Answer

ATP-dependent 6-phosphofructokinase, muscle type

Disease	GLYCOGEN STORAGE DISEASE TYPE VII. TARUI DISEASE
Synonym	GSD7; GLYCOGEN STORAGE DISEASE VII;
OMIM	232800 OMIM = Online Mendelian Inheritance of Men
Orphanet	371
Protein (UniProt)	ATP-dependent 6-phosphofructokinase, muscle type
ExPASy	2.7.1.11
Gene locus	12q13.11
ICD	E74.0
Summary	rare (1:1000.000) autosomal recessive mutation in the PFKM gene
Laboratory findings	2,3-Diphosphoglycerate dec (erythrocytes) Bilirubin inc (serum) Creatine kinase inc (serum) Glycogen inc (muscle) Muscle phosphofructokinase dec (muscle) Myoglobin inc (urine) Phosphofructokinase dec (erythrocytes) Retikulocytes inc (blood) Uric acid inc (plasma)
Symptoms	anemia brown colored urine contractures, joints early death ECG abnormalities [-] exercise intolerance fetal akinesia/hypokinesia sequence gallstones, cholelithiasis hemolysis jaundice muscle cramps muscle weakness myopathy onset, childhood onset, fetus pain, muscle pulmonary hypoplasia renal failure, acute/chronic rhabdomyolysis thrombosis urine color, abnormal