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Insulin‐resistant hyperglycaemia complicating neonatal onset of methylmalonic and propionic acidaemias
Author(s) -
Filippi L.,
Gozzini E.,
Cavicchi C.,
Morrone A.,
Fiorini P.,
Donzelli G.,
Malvagia S.,
Marca G.
Publication year - 2009
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-009-1141-9
Subject(s) - methylmalonic acidemia , medicine , ketoacidosis , methylmalonic acid , diabetic ketoacidosis , insulin , complication , endocrinology , urinary system , hyperammonemia , gastroenterology , diabetes mellitus , type 1 diabetes , vitamin b12
Summary Background: Insulin‐resistant hyperglycaemia may occasionally complicate the clinical course of organic acidaemias. Study Design: Clinical observation. Results: Two term infants, one suffering from acute early‐onset methylmalonic acidaemia, the other suffering from acute early‐onset propionic acidaemia, presented acutely with dehydration, ketoacidosis, and hyperammonaemia. Urinary organic acid, plasma amino acids, and blood and plasma acylcarnitine analysis allowed the diagnosis of methylmalonic and propionic acidaemias. The detection of the novel c.481G>A (p.Gly161Arg) and the known c.655A>T (p.Asn219Tyr) MUT gene mutations identified the first patient as affected by methylmalonic acidaemia mut type. The high increase of propionylcarnitine after carnitine administration in both patients suggested a greatly elevated metabolic intoxication. Both newborns showed insulin‐resistant hyperglycaemia. Patient 1 died, but patient 2, after a strong reduction of glucose administration, survived. To our knowledge, this is the only patient with this complication who survived. Conclusion: Insulin‐resistant hyperglycaemia complicating neonatal onset of methylmalonic and propionic acidaemias is probably a marker of a serious disease. One patient with this complication survived after a strong reduction of glucose administration. Even if this is probably only a partial intervention, we hypothesize that in this situation a reduction of glucose administration can reduce almost the risk of persistent hyperglycaemia. Further studies are required to confirm our hypothesis.