Visit Metagene.de!
Summary
D-LACTIC ACIDOSIS - INBORN ERROR OF METABOLISM?
LACTIC ACIDURIA DUE TO D-LACTIC ACID
245450
OMIM = Online Medalian Inheritance of Men
symptoms
dysmorphism
inguinal hernia
lactic acidosis
mental retardation
metabolic acidosis
microcephaly (<2 SD for age)
onset, infancy
onset, neonatal
laboratory finding
Lactic acid0.000.00 mmol/mol creatinineurine
Literature
Bassuk AGet al.Alexander disease with serial MRS and a new mutation in the glial fibrillary acidic protein geneNeurology6171014-10152003