Insulin-resistant hyperglycaemia complicating neonatal onset of methylmalonic and propionic acidaemias.
BACKGROUND
Insulin-resistant hyperglycaemia may occasionally complicate the clinical course of organic acidaemias.


METHODS
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.


CONCLUSIONS
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.
Filippi
L
L
Neonatal Intensive Care Unit, Department of Critical Care Medicine, A. Meyer University Children's Hospital, viale Pieraccini, 24, 50134, Florence, Italy. l.filippi@meyer.it
Gozzini
E
E
Cavicchi
C
C
Morrone
A
A
Fiorini
P
P
Donzelli
G
G
Malvagia
S
S
la Marca
G
G
D017668:Age of Onset; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications* / Q000235:genetics / Q000378:metabolism; D005260:Female; D006801:Humans; D006943:Hyperglycemia / Q000188:drug therapy / Q000209:etiology* / Q000378:metabolism; D007231:Infant, Newborn; D007333:Insulin Resistance; D008297:Male; D043586:Methylmalonyl-CoA Decarboxylase / Q000235:genetics; D008765:Methylmalonyl-CoA Mutase / Q000235:genetics; D056693:Propionic Acidemia / Q000150:complications* / Q000235:genetics / Q000378:metabolism
D008765:Methylmalonyl-CoA Mutase; D043586:Methylmalonyl-CoA Decarboxylase