Adenosine monophosphate deaminase deficiency
| Classification according to ICD-10 | |
|---|---|
| G71.3 | Mitochondrial myopathy, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The adenosine monophosphate deaminase deficiency (AMP) deficiency is a very rare congenital metabolic disorder with lack of AMP deaminase .
root cause
Depending on the underlying mutation , the following types can be distinguished:
- Deficiency in skeletal muscle with mutations in AMPD1 - gene on chromosome 1 locus P13.2. This form is also called myoadenylate desaminase deficiency .
- Deficiency in the erythrocytes with mutations in the AMPD3 gene on chromosome 11 locus p15.4.
distribution
The frequency is not known. The muscular form is considered to be the most common congenital muscle disease in the white population with 1 in 50–100 compared to 1 in 40,000 among African Americans .
The inheritance of both forms is done autosomal - recessive .
Erythrocyte form
The deficiency of this AMP deaminase has been described together with a reduced plasma level of uric acid . There are no clinical effects.
The first description comes from 1987 by the Japanese N. Ogasawara and colleagues.
literature
- MM Zydowo, J. Purzycka Prize, N. Ogasawara: Deficiency of AMP deaminase in human erythrocytes. In: Advances in Experimental Medicine and Biology . Volume 253A, 1989, pp. 31-34, PMID 2624209 .
- Y. Yamada, H. Goto, N. Ogasawara: Erythrocyte amp deaminase deficiency in Japanese: a compound heterozygous responsible for the complete deficiency. In: Advances in Experimental Medicine and Biology . Volume 486, 2000, pp. 71-74, PMID 11783530 .
- WG O'Brien, V. Berka, AL Tsai, Z. Zhao, CC Lee: CD73 and AMPD3 deficiency enhance metabolic performance via erythrocyte ATP that decreases hemoglobin oxygen affinity. In: Scientific Reports . Volume 5, August 2015, p. 13147, doi: 10.1038 / srep13147 , PMID 26249166 , PMC 4650700 (free full text).
Individual evidence
- ↑ a b c Adenosine monophosphate deaminase deficiency. In: Orphanet (Rare Disease Database).
- ↑ Myopathy due to myoadenylate deaminase deficiency. In: Online Mendelian Inheritance in Man . (English)
- ↑ AMP deaminase deficiency, erythrocytic. In: Online Mendelian Inheritance in Man . (English)
- ^ Genetics Home Reference
- ↑ N. Ogasawara, H. Goto, Y. Yamada, I. Nishigaki, T. Itoh, I. Hasegawa, KS Park: Deficiency of AMP deaminase in erythrocytes. In: Human Genetics. Volume 75, Number 1, January 1987, pp. 15-18, PMID 3804327 .
