Cutaneous manifestations of methylmalonic acidemia

✍ Scribed by R. J. J. Koopman; R. Happle

• Publisher: Springer-Verlag
• Year: 1990
• Tongue: English
• Weight: 523 KB
• Volume: 282
• Category: Article
• ISSN: 0340-3696
• DOI: 10.1007/bf00371650

✦ Synopsis

Methylmalonic acidemia is an inborn error of metabolism leading to protein intolerance. This autosomal recessive trait [8] is caused by decreased activity of methylmalonyl-CoA mutase or its coenzyme adenosylcobalamin, a vitamin B~2 metabolite. Seven mutations of this enzyme or its coenzyme have been identified [3]. The incidence has been estimated to be about 48,000 [1]. Clinical manifestations often develop during the first weeks of life. Poor feeding, vomiting, hypotonia, lethargy, dehydration, and acidosis may progress rapidly to coma and death [4]. Early diagnosis is mandatory because a low protein diet with supplementation of essential amino acids and vitamin B12 is an effective therapy.

Methylmalonic acidemia was first descibed by Oberholzer et al. [6] and Stokke et al. [10]. Matsui et al.

[4] collected 45 cases and described the clinical features and course of this metabolic disorder. Cutaneous signs or symptoms have so far not been described. According to general belief the presence of skin manifestations should even exclude this diagnosis [7]. We here report, however, two cases ofmethylmalonic acidemia with strikingly similar skin changes.