3-hydroxy-3-methylglutaryl-CoA lyase deficiency
HMG lyase deficiency
Initial signs/symptoms may include:
- poor feeding
- lab findings:
- metabolic acidosis
- non-ketotic hypoglycemia
If not treated promptly and consistently, patients may experience:
- failure to thrive
- developmental delay/mental retardation
Treatment consists of limiting fasting time, prompt treatment of infections/fever/gastroenteritis, use of corn-starch, and carnitine supplementation.
- Contact the family and evaluate the infant for poor feeding, vomiting, or lethargy;
- Provide emergency treatment/referral for symptoms hypoglycemia, metabolic acidosis, 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 (see HMG-CoA Lyase Deficiency - Information for Parents (STAR-G) for additional information);
- Frequent, low protein, low fat, and high carbohydrate meals - avoidance of fasting;
- Oral L-carnitine and cornstarch supplementation;
- Bicarbonate and glucose during metabolic crisis episodes;
- For those identified after irreversible consequences, assist in management, particularly with developmental and educational interventions.
HMG-CoA Lyase 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.
HMG-CoA lyase deficiency Acute Illness Protocol (NECMP)
A guideline for health care professionals treating the sick infant/child who has previously been diagnosed with HMG-CoA lyase deficiency; developed under the direction of Dr. Harvey Levy, Senior Associate in Medicine/Genetics at Children’s Hospital Boston, and Professor of Pediatrics at Harvard Medical School, for the New England Consortium of Metabolic Programs.
Resources for HMG-CoA lyase 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.
HMG-CoA Lyase 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.
HMG-CoA Lyase 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.
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.
HMG-CoA Lyase Deficiency (Genetics Home Reference)
Excellent, detailed review of condition for patients and families; sponsored by the U.S. National Library of Medicine.
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.
|Compiled and edited by:||Alfred Romeo, RN, PhD - 3/2007|
|Content Last Updated:||7/2012|
Puisac B, Arnedo M, Casale CH, Ribate MP, Castiella T, Ramos FJ, Ribes A, Pérez-Cerdá C, Casals N, Hegardt FG, Pié J.
Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria.
J Inherit Metab Dis. 2010;33(4):405-10. PubMed abstract / Full Text
The pathophysiology of 3-Hydroxy-3-methylglutaric aciduria, caused by HMG-CoA lyase deficiency, is only partially understood. Findings from this study help the understanding of the enzyme function and consequences of its deficiency and suggest the need for pancreatic damage assessment.