Mitochondrial acetoacetyl-CoA thiolase (MAT) deficiency
Initial signs/symptoms may include:
- feeding problems
- vomiting, possibly with hematemesis
- lethargy progressing to coma
- hypoglycemia or occasionally hyperglycemia
If not treated promptly, patients may experience:
- acute metabolic acidosis
- failure to thrive
- intellectual disability
- Contact the family and evaluate the infant for poor feeding, vomiting, lethargy
- Provide emergency treatment/referral for symptoms of hypoglycemia, ketonuria, or acidosis
- 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.
- Avoidance of fasting; frequent, low protein, high carbohydrate meals. Uncooked cornstarch might be indicated in some cases.
- Some patients tend to spontaneously restrict proteins as they get older.
- Oral L-carnitine may be indicated for some affected children.
- Bicarbonate and intravenous glucose may be indicated during metabolic crisis.
- Monitor urine ketone levels when the child is sick or unable to eat.
- For those identified after irreversible consequences, assist in management, particularly with developmental and educational interventions.
Beta-Ketothiolase Deficiency - Information for Professionals (STAR-G)
Structured list of information about the condition and links to more information; Screening, Technology, and Research in Genetics.
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.
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 Beta-Ketothiolase deficiency (NLM)
Comprehensive compilation of links to information, articles, research, case studies, genetics, and more; from the National Library of Medicine and the Genetic Alliance.
Beta-Ketothiolase Deficiency (OMIM)
Extensive review of literature that provides technical information on genetic disorders; Online Mendelian Inheritance in Man site, hosted by Johns Hopkins University.
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.
Beta-Ketothiolase Deficiency - Information for Parents (STAR-G)
A fact sheet, written by a genetic counselor and reviewed by metabolic and genetic specialists, for families who have received an initial diagnosis of this newborn disorder; Screening, Technology and Research in Genetics.
Beta-Ketothiolase Deficiency (Genetics Home Reference)
Excellent, detailed review of condition for patients and families; U.S. National Library of Medicine.
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.
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.
Pasquali M, Monsen G, Richardson L, Alston M, Longo N.
Biochemical findings in common inborn errors of metabolism.
Am J Med Genet C Semin Med Genet. 2006;142C(2):64-76. PubMed abstract
Inborn errors of isoleucine degradation: a review.
Mol Genet Metab. 2006;89(4):289-99. PubMed abstract