Glycogen storage disease due to muscle phosphofructokinase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: PFKM DEFICIENCY
MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY
GSD VII
GSD7
GSD due to muscle phosphofructokinase deficiency
GSD type 7
Glycogenosis type 7
Glycogenosis due to muscle phosphofructokinase deficiency
Glycogen storage disease type 7
tarui disease
Number of Symptoms 27
OrphanetNr: 371
OMIM Id: 232800
ICD-10: E74.0
UMLs:
MeSH:
MedDRA:
Snomed: 234406005

Prevalence, inheritance and age of onset:

Prevalence: 30 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
Glycogen storage disease
 -Rare genetic disease
Hemolytic anemia due to a disorder of glycolytic enzymes
 -Rare genetic disease
 -Rare hematologic disease
Muscular glycogenosis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0008305) Exercise-induced myoglobinuria 7 / 7739
2
(HPO:0001997) Gout 18 / 7739
3
(HPO:0000952) Jaundice 105 / 7739
4
(HPO:0001081) Cholelithiasis 36 / 7739
5
(HPO:0001923) Reticulocytosis 28 / 7739
6
(HPO:0001878) Hemolytic anemia 83 / 7739
7
(HPO:0001903) Anemia Very frequent [Orphanet] 289 / 7739
8
(HPO:0002149) Hyperuricemia Frequent [Orphanet] 37 / 7739
9
(HPO:0001939) Abnormality of metabolism/homeostasis Very frequent [Orphanet] 328 / 7739
10
(HPO:0003573) Increased total bilirubin 10 / 7739
11
(HPO:0002486) Myotonia Very frequent [Orphanet] 29 / 7739
12
(HPO:0001324) Muscle weakness 859 / 7739
13
(HPO:0009051) Increased muscle glycogen content 8 / 7739
14
(HPO:0003546) Exercise intolerance 62 / 7739
15
(HPO:0003202) Skeletal muscle atrophy Frequent [Orphanet] 281 / 7739
16
(HPO:0003710) Exercise-induced muscle cramps 11 / 7739
17
(OMIM) Muscle fibers may contain abnormal polysaccharide 1 / 7739
18
(HPO:0003828) Variable expressivity 130 / 7739
19
(OMIM) Myoglobinuria with extreme exertion 1 / 7739
20
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
21
(HPO:0030271) Reduced erythrocyte 2,3-diphosphoglycerate concentration 2 / 7739
22
(OMIM) Gallstones due to hemolytic anemia 1 / 7739
23
(OMIM) Decreased erythrocyte 2,3-diphosphoglycerate (2,3-DPG) 1 / 7739
24
(OMIM) Muscle phosphofructokinase deficiency 1 / 7739
25
(OMIM) Jaundice due to hemolytic anemia 1 / 7739
26
(OMIM) Gout due to increased uric acid 1 / 7739
27
(OMIM) No increase of muscle lactate with ischemic exercise testing 1 / 7739

Associated genes:

PFKM;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Glycogen storage disease VII is an autosomal recessive metabolic disorder characterized clinically by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis. Myoglobinuria may also occur. The deficiency of the muscle isoform of PFK results in a total and ...
Clinical Description OMIM Tarui et al. (1965) first described this disorder in 3 affected Japanese sibs, a 20-year-old female and 23- and 27-year-old males. The parents were first cousins. The affected sibs complained of easy fatigability and inability to keep pace with ...
Molecular genetics OMIM In 1 of the original Japanese patients with glycogen storage disease type VII reported by Tarui et al. (1965), Nakajima et al. (1990) identified a homozygous mutation in the PFKM gene (610681.0001).

In 2 Ashkenazi Jewish sisters ...

Population genetics OMIM Raben and Sherman (1995) tabulated 15 GSD VII disease-inducing mutations of the PFKM gene and noted that the disorder is especially prevalent among people of Ashkenazi Jewish descent. The authors found that the frequent exon 5 splicing defect (610681.0005) ...