Organic Acidemia Metabolic Disorders

(MHBD) 2-Methyl-3-Hydroxybutyrl CoA Dehydrogenase deficiency

(2MBCD) 2-Methylbutyryl-CoA Dehydrogenase Deficiency

(HMG) 3-hydroxy-3 -methylglutaryl-CoA lyase deficiency

(3-MCC) 3-methylcrotonyl- CoA carboxylase deficiency

(MGA) 3-Methylglutaconic acidemia or 3-Methylglutaconyl-CoA Hydratase Deficiency

5-oxoprolinemia

(D2-HGA) D-2 Hydroxyglutaric Aciduria

(GA-I) Glutaryl CoA Dehydrogenase Deficiency Type I aka Glutaric Acidemia Type I

(ICBD) Isobutyryl-CoA Dehydrogenase Deficiency 3-Hydroxyisobutyric aciduria

(IVA) Isovaleryl CoA Dehydrogenase Deficiency aka Isovaleric Acidemia

(L2HGA) L-2-Hydroxy- glutaricaciduria

(MA) Malonyl-CoA Decarboxylase Deficiency aka Malonic Acidemia

(MMA) Methlymalonic Acidemia

(BKT) Mitochondrial Acetoacetyl CoA Thiolase- (3-Ketothiolase)

(MCD, holocarboxylase synthetase) Multiple carboxylase deficiency

(PA) Propionyl CoA Carboxylase Deficiency aka Propionic Acidemia

(HIBCH) 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency

(MMA) MMA Methylmalonic Acidemia

Emergency Treatment Protocol

Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly. The effects of methylmalonic acidemia vary from mild to life-threatening. This condition, which usually appears in early infancy, is characterized by vomiting, dehydration, weak muscle tone (hypotonia), and excessive tiredness (lethargy). Without treatment, the disorder can lead to coma and death in some cases. more >>

Informative Websites on MMA

MMA Research and Study Information

MMA Medical Journal Articles

Family Websites

 

Meet Our Children With Methylmalonic Acidemia

 
 
   

Jimmy

MMA Mut 0

   

Marco

MMA Cbl C

 

Becca

MMA Mut 0

 

Max

Cbl X

         
 
 
 

Amber

MMA Mut 0

 
 
 
 

Bradley

MMA Cbl C

 

Connor

MMA Cbl A

         
 
 
   

Lara

MMA Mut 0

         
 
 

Yusuf

MMA Mut 0

 

         
 
 
   
         

Stephanie & Luke
MMA Mut 0

Tyler
MMA Cbl A