Cytochrome oxidase deficiency presenting as birth asphyxia

Birth asphyxia.

Cytochrome C Oxidase Deficiency in Childhood

Mitochondria participate in a number of metabolic pathways, in the cell growth, aging process and cell death/ apoptosis but their principal biological function is energy production. More than 90% of ATP is produced by oxidative phosphorylation (OXPHOS) in the inner mitochondrial membrane. OXPHOS is composed of four multiprotein respiratory chain complexes, ATP synthase and two electron carriers...

Assembly of cytochrome c oxidase: what can we learn from patients with cytochrome c oxidase deficiency?

Cytochrome c oxidase is an intricate metalloprotein that transfers electrons from cytochrome c to oxygen in the last step of the mitochondrial respiratory chain. It uses the free energy of this reaction to sustain a transmembrane electrochemical gradient of protons. Site-directed mutagenesis studies of bacterial terminal oxidases and the recent availability of refined crystal structures of the ...

Leukocyte Adhesion Deficiency Type 1 Presenting as Leukemoid Reaction

The hallmarks of leukocyte adhesion deficiency (LAD) are defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections. These molecular and clinical manifestations result from an impaired step in the inflammatory process, namely, the emigration of leukocytes from the blood vessels to sites of infection, which requires adhesion of leukocytes to the endothelium. Over las...

Pierre robin sequence as birth asphyxia in a new born.

A new born baby boy presented with birth asphyxia and respiratory distress. He went into cardiac arrest twice but was resuscitated. On detailed evaluation, he had low set ears and micrognathia with glossoptosis consistent with features of Pierre Robin sequence. Episodes of apnoea disappeared, on nursing, the baby in prone position and later on tongue-lip retention suture were applied. Prompt di...