Holocarboxylase/multiple carboxylase deficiency
Holocarboxylase synthetase deficiency (HCSD)
269.2, Unspecified vitamin deficiency
Initial signs/symptoms may include:
- poor feeding
- skin rashes
- lab findings:
- metabolic acidosis
- elevated organic acid levels in the blood and urine
If not treated promptly, patients may experience:
- difficulty breathing
- motor skill delays
- hearing loss
- speech loss
- problems with coordination
- brain damage
Treatment consists of biotin at high doses (20-300 mg per day), fasting avoidance and prompt treatment of infections, fever, gastroenteritis with fluids containing glucose.
- Contact the family and evaluate the infant for poor feeding, vomiting, or lethargy;
- Provide emergency treatment/referral for signs/symptoms of hypoglycemia, metabolic acidosis, ketonuria, 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 Holocarboxylase/Multiple Carboxylase Deficiency - Information for Parents (STAR-G) for additional information)
- Biotin supplements are indicated
- For those identified after irreversible consequences, assist in management, particularly developmental and educational interventions
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 Holocarboxylase/multiple carboxylase 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.
Holocarboxylase/Multiple Carboxylase Deficiency (OMIM)
Extensive review of literature that provides technical information on genetic disorders; Online Mendelian Inheritance in Man site, hosted by Johns Hopkins University.
Holocarboxylase/multiple carboxylase deficiency Fact Sheet (Iowa Dept. of Health) ( 21 KB)
This fact sheet, developed by the Iowa Department of Health, 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.
Holocarboxylase/Multiple Carboxylase 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.
Holocarboxylase/multiple carboxylase deficiency (Genetics Home Reference)
Excellent, detailed review aimed at patients and families from the National Library of Medicine's Genetics Home Reference site.
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.