General Information for Families
Organic Acidemias are a group of inheritable genetic metabolic disorders in which
there is a defect in protein metabolism where an essential enzyme is absent or malfunctioning.
This defect results in a build up of chemicals, in this case usually acids, on one
side of the metabolic blockage and a deficiency of vital chemicals on the other.
This causes an overdose of one chemical (often toxic) and the shortage of another
which is essential to normal body functioning.
The effect of the disorder will depend upon the age at which symptoms occur. Children
with less severe forms of the conditions develop symptoms later.
Characteristics of the conditions include general malaise, reluctance to feed, breathing
problems, vomiting, hypotonia (floppiness) and/or spasticity (stiffness).
Early detection and treatment can greatly mitigate the effects of the disorder.
Inheritance patterns: Autosomal recessive
Prenatal diagnosis: Chorionic villus sampling at 8-10 weeks is now the usual method
of testing. Amniocentesis at 16-20 weeks is also sometimes used.
Due to the increasing number of conditions identified as coming under the umbrella
of Organic Acidemias, it is not possible to include them all, but here are a some:
- 2-Methyl-3-Hydroxybutyrl CoA Dehydrogenase Deficiency (MHBD)
- 2-Methylbutyryl-CoA Dehydrogenase Deficiency (2MBCD)
- 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (HMG)
- 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)
- 3-Methylglutaconyl-CoA Hydratase Deficiency (MGA)
- 5-Oxoprolinemia
- D-2 Hydroxyglutaric Aciduria (D2-HGA)
- Glutaric Acidemia-Type I (GA-I)
- Isobutyryl-Coa Dehydrogenase Deficiency (ICBD)
- Isovaleric Acidemia (IVA)
- L-2-Hydroxy-Glutaricaciduria (L2HGA)
- Malonyl-CoA Decarboxylase Deficiency aka Malonic Acidemia (MA)
- Methylmalonic Acidemia (MMA)
- Mitochondrial Acetoacetyl-Coa Thiolase Deficiency (BKT)
- Multiple Carboxylase Deficiency (MCD)
- Propionyl CoA Carboxylase Deficiency aka Propionic Acidemia (PPA)
Source: The Organic Acidemia Association
What are organic acidemias?
Organic acidemias (acid-ee-me-ahs) cause the body to have problems breaking down
certain proteins. The body breaks down, or metabolizes, food. The food is changed
into nutrients the body can use, and the body gets rid of the chemicals it does not need. Enzymes (chemicals that do jobs in the body) usually help break down food.
A person who has an organic acidemia is missing a specific enzyme, or the enzyme is not working as well as it should. This prevents the body from breaking down protein
in food, and toxic chemicals can cause serious damage to organs. Each enzyme deficiency
causes a different organic acidemia. A special diet and medication can prevent most
problems.
What causes organic acidemias?
Organic acidemias are inherited when both parents pass an abnormal organic acidemia
gene to their child. This means both parents are carriers of a particular organic
acidemia. Carriers do not experience any health problems related to the organic
acidemia. When two carriers of a particular organic acidemia have children together, there is a one in four (25%) chance for each child to have that organic acidemia.
How are organic acidemias detected?
Newborn screening is done on tiny samples of blood taken from the infant’s heel 24-48 hours after birth. After a positive newborn screen, testing at special labs must be done to know for sure if a baby has an organic acidemia.
What problems can organic acidemias cause?
An organic acidemia is different for each child. Untreated organic acidemias can
cause vomiting, feeding difficulties, liver and kidney problems, mental retardation,
and possibly death. It is extremely important to follow the doctor’s instructions about caring for a child with an organic acidemia.
What is the treatment for organic acidemias?
Organic acidemias can be treated. People with organic acidemias should not eat certain
proteins that the body has trouble breaking down. Medications may help the body
get rid of harmful toxins. The treatment is life-long. For children who have an
organic acidemia:
- The child should have a primary care doctor, a pediatric metabolic specialist, and a dietician. These health professionals give the child good medical care and educate the family about the organic acidemia.
- Families are taught to read labels carefully when shopping for food.
- Treatment for an organic acidemia is life-long, and a child with an organic acidemia should see a doctor regularly.
Source: Minnesota Newborn Screening Program
Organic Acid Disorders Prevalence by State
The Region 4 Newborn Screening Data, summarized annually, provides detailed data on newborn screening results within Illinois, Indiana, Kentucky, Michigan, Minnesota, Ohio and Wisconsin. It is provided here to: assist families and physicians in knowing the relative number of confirmed annual cases for the disorder within each state and how it compares to other states in the region. assist families and specialists across states in connecting with specialists who may have experience treating a specific rare disorder. It is important to note that ongoing developments in the sophistication of technology allows states to progressively increase the number of disorders they screen in their program.
| 2005 Confirmed Cases | ||||||||
| State: | IL | IN | OH | MI | WI | MN | KY | TOTALS |
| Total Births: | 175659 | 85570 | 144509 | 124942 | 70934 | 71058 | 52222 | 724894 |
| GA I: Glutaric acidemia type 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| HMG: 3 Hydroxy-3-methylglutaric Aciduria | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| IVA: Isovaleric acidemia | 3 | 0 | 0 | 0 | 1 | 1 | 0 | 5 |
| 3-MCC: 3-Methylcrotonyl-CoA carboxylase | 2 | 0 | 0 | 0 | 1 | 0 | 0 | 3 |
| Cbl-A,B: Methylmalonic Acidemia | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| MUT: Methylmalonic Acidemia | 0 | 0 | 0 | 0 | 0 | 2 | 0 | 2 |
| MMA: Methylmalonic Acidemia Unspecified | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| BKT: Betaketothiolase (BKT, mitochondrial acetoacetyl-CoA thiolase, short-chain ketoacyl thiolase) | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| PROP (PA): Propionic acidemia | 0 | 0 | 0 | 1 | 1 | 0 | 0 | 2 |
| MCD: Multiple carboxylase | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 2M3HBA: 2-Methyl-3-hydroxy butyric aciduria | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 2MBCD: 2-methylbutyryl Co-A dehydrogenase de | 0 | 0 | 0 | 1 | 9 | 0 | 0 | 10 |
| 3MGA: 3-Methylglutaconic aciduria | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| Cbl-C,D: Methylmalonic acidemia | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| IBG: Isobutyryl-CoA dehydrogenase | 3 | 0 | 0 | 0 | 0 | 0 | 0 | 3 |
| MAL: Malonic acidemia | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 2004 Confirmed Cases | ||||||||
| State: | IL | IN | OH | MI | WI | MN | KY | TOTALS |
| Total Births: | 177603 | 87942 | 142023 | 134103 | 66625 | 70579 | 50930 | 729805 |
| GA I: Glutaric acidemia type 1 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | 4 |
| HMG: 3 Hydroxy-3-methylglutaric Aciduria | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| IVA: Isovaleric acidemia | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| 3-MCC: 3-Methylcrotonyl-CoA carboxylase | 3 | 2 | 0 | 0 | 2 | 0 | 0 | 7 |
| Cbl-A,B: Methylmalonic Acidemia | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| MUT: Methylmalonic Acidemia | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| MMA: Methylmalonic Acidemia Unspecified | 3 | 0 | 0 | 0 | 1 | 0 | 0 | 4 |
| BKT: Betaketothiolase (BKT, mitochondrial acetoacetyl-CoA thiolase, short-chain ketoacyl thiolase) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| PROP (PA): Propionic acidemia | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| MCD: Multiple carboxylase | 00 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 2M3HBA: 2-Methyl-3-hydroxy butyric aciduria | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 2MBCD: 2-methylbutyryl Co-A dehydrogenase de | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 3MGA: 3-Methylglutaconic aciduria | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| Cbl-C,D: Methylmalonic acidemia | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| IBG: Isobutyryl-CoA dehydrogenase | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| MAL: Malonic acidemia | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 2003 Confirmed Cases | ||||||||
| State: | IL | IN | OH | MI | WI | MN | KY | TOTALS |
| Total Births: | 182590 | 86382 | 151983 | 130937 | 70053 | 70157 | 55281 | 747383 |
| GA I: Glutaric acidemia type 1 | 2 | 0 | 0 | 0 | 0 | 0 | 0 | 2 |
| HMG: 3 Hydroxy-3-methylglutaric Aciduria | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| IVA: Isovaleric acidemia | 6 | 0 | 0 | 0 | 0 | 0 | 0 | 6 |
| 3-MCC: 3-Methylcrotonyl-CoA carboxylase | 3 | 0 | 0 | 0 | 0 | 0 | 0 | 3 |
| Cbl-A,B: Methylmalonic Acidemia | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| MUT: Methylmalonic Acidemia | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| MMA: Methylmalonic Acidemia Unspecified | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| BKT: Betaketothiolase (BKT, mitochondrial acetoacetyl-CoA thiolase, short-chain ketoacyl thiolase) | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| PROP (PA): Propionic acidemia | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
| MCD: Multiple carboxylase | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| 2M3HBA: 2-Methyl-3-hydroxy butyric aciduria | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 2MBCD: 2-methylbutyryl Co-A dehydrogenase de | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 3MGA: 3-Methylglutaconic aciduria | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| Cbl-C,D: Methylmalonic acidemia | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| IBG: Isobutyryl-CoA dehydrogenase | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| MAL: Malonic acidemia | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 2002 Confirmed Cases | ||||||||
| State: | IL | IN | OH | MI | WI | MN | KY | TOTALS |
| Total Births: | 180622 | 84618 | 148720 | 129967 | 68560 | 68025 | 54233 | 734745 |
| GA I: Glutaric acidemia type 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| HMG: 3 Hydroxy-3-methylglutaric Aciduria | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| IVA: Isovaleric acidemia | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| 3-MCC: 3-Methylcrotonyl-CoA carboxylase | 4 | 0 | 0 | 0 | 0 | 0 | 0 | 4 |
| Cbl-A,B: Methylmalonic Acidemia | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| MUT: Methylmalonic Acidemia | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| MMA: Methylmalonic Acidemia Unspecified | 2 | 0 | 0 | 0 | 0 | 0 | 0 | 2 |
| BKT: Betaketothiolase (BKT, mitochondrial acetoacetyl-CoA thiolase, short-chain ketoacyl thiolase) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| PROP (PA): Propionic acidemia | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| MCD: Multiple carboxylase | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 2M3HBA: 2-Methyl-3-hydroxy butyric aciduria | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 2MBCD: 2-methylbutyryl Co-A dehydrogenase de | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 3MGA: 3-Methylglutaconic aciduria | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| Cbl-C,D: Methylmalonic acidemia | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| IBG: Isobutyryl-CoA dehydrogenase | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| MAL: Malonic acidemia | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
