COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 (COXPD19) | |
LYRM4, ISD11 | |
615595
OMIM = Online Mendelian Inheritance of Men | |
397593 | |
LYR motif-containing protein 4 | |
6p25.1 |
|
E88.8 | |
very rare autosomal recessive mutation in the LYRM4 gene | |
Laboratory findings | 3-Hydroxy-3-methylglutaric acid normal/inc (urine) 3-Hydroxyisovaleric acid normal/inc (urine) 3-Methylglutaconic acid normal/inc (urine) L-Lactic acid inc (plasma) |
Symptoms | cardiac arrest failure to thrive feeding difficulties, poor feeding hypotonia lactic acidosis onset, infancy onset, neonatal respiratory distress |