Visit Metagene.de!
Summary
ACETYL-CoA ACETYLTRANSFERASE-2 DEFICIENCY ACAT2D
614055
OMIM = Online Medalian Inheritance of Men
6q25.3
very rare

symptoms
ataxia
chorea or athetosis
hypotonia
onset, infancy
psychomotor retardation
laboratory finding
Ketone bodies +++urine
L-Lactic acid mmol/lserum
Pyruvic acid +€mol/lserum
Literature
Janssen AG,et al.Disease-causing dysfunctions of barttin in Bartter syndrome type IVJ Am Soc Nephrol201145-1532009
Schlingmann KP,et al.Salt wasting and deafness resulting from mutations in two chloride channelsN Engl J Med350131314-13192004