1.5

Disorders of energy substrate metabolism

This group of disorders combines disorders of pyruvate metabolism, disorders of the Krebs cycle as well as creatine metabolism disorders.

The products of amino acid, carbohydrate, and lipid breakdown are transported into the mitochondria where they serve as substrates for adenosine triphosphate (ATP) synthesis by the process of oxidative phosphorylation. This process is essential to cells, as ATP serves as the main energy source to fuel various biological functions, from muscle contraction to nerve impulse transmission.

These disorders are generally due to deficiency of several enzymes or molecule transporters, leading to the accumulation of toxic intermediates which can disrupt the normal functions of cells.

1.5.a

Disorders of pyruvate metabolism

Pyruvate dehydrogenase E1 alpha deficiency Pyruvate dehydrogenase E1 beta deficiency…
1.5.b

Disorders of the Krebs cycle

Mitochondrial aconitase deficiency (Infantile cerebellar-retinal degeneration) Cytosolic NADP+-dependent isocitrate dehydrogenase…
1.5.c

Disorders of creatine metabolism

Arginine:glycine amidinotransferase (AGAT) deficiency (Cerebral creatine deficiency syndrome type 3)…

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