2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
hydroxyl-CoA dehydrogenase deficiency
3-hydroxy-2-methylbutyryl-CoA dehydrogenase (3H2MBD) deficiency
Initial signs/symptoms may include:
- Poor feeding
- Lab findings:
- Lactic acidosis
- Progressive loss of motor skills
- Hearing loss
- Retinal degeneration
- Brain damage
- Contact the family and evaluate the infant for poor feeding, vomiting, or lethargy.
- Provide emergency treatment/referral for symptoms of hypoglycemia, metabolic acdosis, or seizures.
- To confirm the diagnosis, work with the following service(s): see all Newborn Screening Programs services providers (3) in our database.
- For evaluation and ongoing collaborative management, consult the following service(s): Pediatric Medical Genetics , (801-213-3599); See also Services below.
- Educate the family regarding signs, symptoms, and the need for urgent care when the infant becomes ill.
- Isoleucine and protein restriction, treatment of acute episodes with glucose and fluids.
- For those identified after irreversible consequences, assist in management, particularly with low vision aids, hearing aids or cochlear implants, developmental and educational interventions.
Newborn Screening ACT Sheets & Confirmatory Algorithms (ACMG)
ACTion (ACT) Sheets and algorithms for responding to positive newborn screening test results, membership required; American College of Medical Genetics.
Resources for 2M3HBA Deficiency (Disease InfoSearch)
Compilation of information, articles, research, case studies, and genetics links; from Genetic Alliance.
2M3HBA Deficiency (OMIM)
Extensive review of literature that provides technical information on genetic disorders; Online Mendelian Inheritance in Man site, hosted by Johns Hopkins University.
2M3HBA Deficiency Fact Sheet (Iowa Dept. of Health) ( 21 KB)
Provides information for parents and professionals.
Genetics in Primary Care Institute (AAP)
The goal of this site is to increase collaboration in the care of children with known or suspected genetic disorders. Includes health supervision guidelines and other useful resources; a collaboration among the Health Resources & Services Administration, the Maternal and Child Health Bureau, and the American Academy of Pediatrics.
Organic Acidemia Association (OAA)
A nonprofit organization that provides information, newsletters, calendars of events, connections with other parents, a listserv, a discussion board, and nutrition and recipe ideas.
2M3HBA Deficiency (Genetics Home Reference)
Excellent, detailed review of condition for patients and families; U.S. National Library of Medicine.
Newborn Screening Information for Clinicians (NNSGRC)
Fact sheets, data reports, publications ,and information for clinicians about genetic screening that includes links to state genetic contacts; National Newborn Screening & Global Resource Center.
ACT Sheet for Elevated C5-OH Acylcarnitine (ACMG) ( 400 KB)
Contains short-term recommendations for clinical follow-up of the newborn who has screened positive; American College of Medical Genetics.
See all Newborn Screening Programs services providers (3) in our database.
See all Pediatric Genetics services providers (5) in our database.
For other services related to this condition, browse our Services categories or search our database.