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Methylmalonic Acidemia (MMA)
(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 protocol letter in PDF

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

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Kumiko Boscarino

MMA Mut 0

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Joanne Lee

MMA, Mut A

Sapien Saldivar

MMA, Cbl A

Tyler Reimers

MMA Cbl A

Michael Clapcich

MMA Cbl C

Marc-Antony DeGrace

MMA Cbl C

Matthew Rouse

MMA, Cbl C

Max Watson

MMA Cbl C

Christy Cranfill

MMA Mut 0

Brandon Solomon

MMA Cbl C

Jordan & Jenna

MMA Mut 0

Alya Wiseman

MMA Mut 0

Vincent Sanchez - Mut O

Kidney/Liver Transplant

Delany & Nathan

MMA Cbl B

Eric Coldsmith

MMA Mut 0

Michelle Crook

MMA Mut 0

Johnny Tate - Mut 0 &

Dr. Chuck Venditti, NIH

 

 

 
     
     
     
     
     
     
     
     
     
     
     
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