Table 1. Reported cases of Aldolase A deficiency with the described mutations.

Ethnicity	Consanguinity	Mutation	Clinical description			Aldolase A activity (U/gHb)		Consequences	Ref.
			Hemolytic anemia	Myopathy	Mental retardation	Patient	Control
Japanese	Probable	p.Asp128Gly	Yes	No	No	0,12	2,99	AA in the subunit interface essential for the tetrameric structure.Thermolability	Miwa et al,1981; Kishi et al,1987
German	No	p.Glu206Lys	Yes	Yes	No	0.3	7.9	AA in the subunit interface essential for the tetrameric structure	Kreuder et al, 1996
Sicilian	No	p.Arg303X p.Cys338Tyr	Yes	Yes	No	0.3	1.3-2.8*	AA involved in maintaining the correct spatial conformation	Yao et al, 2004
Moroccan	Yes	p.Ala279Val	No	Yes	Yes	0.4	4.6	AA near a critical “hinge” region determining the position of the flexible C-terminal region required for correct activity	Current report

*: normal range. In the first case reported by Beutler et al in 1973 with no described mutation, the red cell aldolase activity was 16% of normal mean.