Organic Acid Disorders

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Organic Acid Disorders

• AHMG, Juniata College, Fall 2004

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Organic Acidurias
During first year or suddenly during
childhood Vomiting Failure to
thrive Hypotonia Lethargy Odors Laboratory
findings Metabolic acidosis Ketonuria Hyperamm
onemia Thrombocytopenia Organic/amino aciduria
X
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Methylmalonic Aciduria
Valine Odd Chain fatty acids Methionine Isoleucine
Threonine
Propionic CoA Carboxylase
Methylmalonyl CoA Mutase
Propionic CoA
Methylmalonyl CoA
Succinyl CoA
Methylmalonic Acid
Propionic Acid
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Methylmalonic Aciduria
Valine Odd Chain fatty acids Methionine Isoleucine
Threonine
Propionic CoA Carboxylase
X
Methylmalonyl CoA Mutase
Propionic CoA
Methylmalonyl CoA
Succinyl CoA
Methylmalonic Acid
Propionic Acid
http//www.wiley.com/legacy/college/boyer/04700037
90/animations/tca/tca.htm
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Methylmalonic Aciduria

• Methylmalonic aciduria
• Hypoglycemia
• MMA Mutase mutants inhibit pyruvate carboxylase
• Hyperglycinemia
• MMA Mutase mutants inhibit glycine cleavage
  enzyme
• Hyperammonemia
• MMA Mutase mutants inhibit NAG synthetase

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Peters H, et al. JBC.

• Questions?

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