Visit Metagene.de!
Summary
MAMEL (METHYLMALONIC ACIDURIA MITOCHONDRIAL ENCEPHELOPATHY LEIGH-LIKE) A NEW MITOCHONDRIAL ENCEPHALOPATHY
symptoms
athetosis
dystonia
failure to thrive
hypotonia
lactic acidosis
mental retardation
motor retardation
laboratory finding
Methylmalonic acid0.000.00 increasedurineno data
Acylcarnitine/carnitine ratio abnormalblood
MRI, brain, abnormalities -
Literature
Gmyrek GAet al.Bilateral laparoscopic adrenalectomy as a treatment for classic congenital adrenal hyperplasia attributable to 21-hydroxylase deficiencyPediatrics1092E282002