combined oxidative phosphorylation deficiency type 4

A rare hereditary condition (OMIM:610678) characterised by neonatal lactic acidosis, rapidly progressive encephalopathy, severely reduced mitochondrial protein synthesis, and combined deficiency of mtDNA-related mitochondrial respiratory chain complexes.

Molecular pathology
Defects of TUFM, which encodes a protein that promotes GTP-dependent binding of aminoacyl-tRNA, cause combined oxidative phosphorylation deficiency type 4.

单词	combined oxidative phosphorylation deficiency type 4
释义	combined oxidative phosphorylation deficiency type 4 combined oxidative phosphorylation deficiency type 4 A rare hereditary condition (OMIM:610678) characterised by neonatal lactic acidosis, rapidly progressive encephalopathy, severely reduced mitochondrial protein synthesis, and combined deficiency of mtDNA-related mitochondrial respiratory chain complexes. Molecular pathology Defects of TUFM, which encodes a protein that promotes GTP-dependent binding of aminoacyl-tRNA, cause combined oxidative phosphorylation deficiency type 4.
随便看	amino acid response unit amino acids aminoacids amino acid screen, blood amino acid screen, urine amino acid sequence amino acid sequencer amino acids, sulfur amino acid therapy amino acid transamidation amino acid transamination amino acid transport systems amino acid transport systems, acidic amino acid transport systems, neutral aminoacid-trna ligases aminoaciduria aminoaciduria, renal aminoacyl aminoacyl adenylate aminoacylase aminoacylase 2 aminoacylase-2 aminoacylase 2 deficiency aminoacylation aminoacyl-histidine dipeptidase