Tarui disease
| Classification according to ICD-10 | |
|---|---|
| E74.0 | Glycogen storage disease (glycogenosis) |
| ICD-10 online (WHO version 2019) | |
The phosphofructokinase deficiency ( dt. Tarui disease ), glycogen storage disease type VII , also Tarui glycogenosis or Phosphofruktokinasemangel (PFKM), named after Seiichiro Tarui ( Japanese doctor and professor of Internal Medicine ), is an autosomal - recessive inherited metabolic disease with a defect in the Phosphofructokinase enzyme , more precisely the isoenzyme form of muscle (PFK-M). The failure of the synthesis of fructose-1,6-bisphosphate (see glycolysis ) leads to stress-dependent muscle weakness with muscle pain and hemolytic anemia . Are responsible mutations in PFKM - gene on chromosome 12 , locus 12q13.3.
Clinic and course
The disease manifests itself in early childhood. Clinically, the patients with a z. Sometimes significant exercise intolerance is evident, often in connection with muscle pain, nausea and vomiting. In parallel, there is a compensated hemolytic anemia with increased reticulocyte counts and hyperbilirubinemia . A hyperuricaemia under load is also observed.
Diagnosis
The diagnosis extends to the detection of reduced enzyme activity in muscle tissue and erythrocytes . In individual cases, a molecular genetic examination can provide clarity.
therapy
The therapy is purely symptomatic. Patients should avoid physical exertion as much as possible.
Individual evidence
- ^ S. Tarui, G. Okuno, Y. Ikura, T. Tanaka, M. Suda, M. Nishikawa: Phosphofructokinase deficiency in skeletal muscle. A new type of glycogenosis. In: Biochem Biophys Res Commun . 1965 May 3; 19, pp. 517-523. PMID 14339001
- ↑ TD Howard, G. Akots, DW Bowden: Physical and Genetic Mapping of the Muscle Phosphofructokinase Gene (PFKM): Reassignment to Human Chromosome 12q. In: Genomics. 1996 May 15; 34 (1), pp. 122-127. PMID 8661033 .
- ↑ T. Shimizu, N. Kono, H. Kiyokawa, Y. Yamada, N. Hara, I. Mineo, M. Kawachi, H. Nakajima, YL Wang, S. Tarui: Erythrocyte glycolysis and its marked alterations by muscular exercise in type VII glycogenosis. In: Blood . 1988 Apr; 71 (4), pp. 1130-1134. PMID 3162690 .
