Visit Metagene.de!
Summary
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 COXPD19
615595
OMIM = Online Medalian Inheritance of Men
397593
6p25.1
rare
autosomal recessive
mutation in the LYRM4 gene
symptoms
failure to thrive
feeding difficulties, poor feeding
hypotonia
lactic acidosis
onset, neonatal
respiratory distress
laboratory finding
Lactic acid increasedserum
Literature
Park JH,Schuchman EHAcid ceramidase and human diseaseBiochim Biophys Acta. 2006 Dec1758(12):2133-81758122133-21382006