Living with Holocarboxylase synthetase deficiency
An inherited condition where the body can't use the vitamin biotin well, with early feeding, breathing, and skin problems.
Understanding Holocarboxylase synthetase deficiency
It is a multiple carboxylase deficiency, affecting enzymes that need biotin. Signs usually appear in the first few months of life, but the age varies. Infants often have trouble feeding, breathing problems, a skin rash, hair loss, and low energy. Prompt treatment and lifelong management with biotin supplements may prevent many complications.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble feeding and poor appetite
- Breathing difficulties
- Rash around the mouth (perioral eczema)
- Low muscle tone (hypotonia)
- Seizures
- Slow growth
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists.
- 3Consider genetic testing
Changes in HLCS are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Organic Acidemia Association
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the HLCS gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: biotin-(propionyl-coa-carboxylase) ligase deficiency; early-onset multiple carboxylase deficiency; holocarboxylase synthase deficiency; multiple carboxylase deficiency - neonatal onset; multiple carboxylase deficiency, early onset; neonatal multiple carboxylase deficiency
Patient organizations
- Organic Acidemia AssociationHolocarboxylase synthetase deficiency · United States
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Perspectives from people navigating life with Holocarboxylase synthetase deficiency.
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