Erythrocyte Amp Deaminase Deficiency

A number sign (#) is used with this entry because complete erythrocyte AMP deaminase deficiency is caused by homozygous mutation in the AMPD3 gene (102772) on chromosome 11p15.

Description

Complete deficiency of erythrocyte AMP deaminase is a clinically benign disorder (Ogasawara et al., 1987; Zydowo et al., 1989).

Clinical Features

Ogasawara et al. (1987) observed 6 related individuals with complete deficiency of erythrocyte AMP deaminase (isozyme E). All were healthy and had no hematologic disorders. The ATP level was approximately 150% higher in AMP-deficient red cells compared to the level in the control cells. Degradation of adenine nucleotide was slower in the deficient erythrocytes than in the control erythrocytes.

Inheritance

The erythrocyte AMP deaminase deficiency described by Ogasawara et al. (1987) appeared to be an autosomal recessive trait because both parents had partial deficiency in each case in which this could be studied and all children of completely deficient individuals were partially deficient.

Population Genetics

Ogasawara et al. (1987) found that the heterozygote frequency of AMPD3 deficiency in Japan, Korea, and Taiwan ranged from 2.7 to 3.6 per 100. In Poland, Zydowo et al. (1989) found a heterozygote frequency of 6.5 per 100.

Molecular Genetics

In 4 Japanese individuals with erythrocyte AMP deficiency Yamada et al. (1994) identified an R573C mutation in the AMPD3 gene (102772.0001); 2 with complete deficiency, originally reported by Ogasawara et al. (1987), were homozygous for the mutation and 2 with partial deficiency were heterozygous.