Living with Deficiency of aromatic-L-amino-acid decarboxylase
An inherited condition that affects how nerve cells pass messages, causing movement problems and developmental delay.
Understanding Deficiency of aromatic-L-amino-acid decarboxylase
Symptoms usually appear in the first six months of life. Babies may have feeding problems, low muscle tone, and sleep problems. Most children have episodes called oculogyric crises, in which the eyes roll upward without control. Developmental delay and intellectual disability are common.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Feeding difficulties
- Muscle tensing that twists the body (dystonia)
- Sleep problems
- Delayed development overall
- Acid reflux
- Excessive sweating
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 brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in DDC 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
- Brain and nervous system specialists (neurologists); 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 Pediatric Neurotransmitter Disease 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 DDC gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: aadc deficiency; aromatic amino acid decarboxylase deficiency; aromatic l-amino acid decarboxylase deficiency; aromatic l-amino-acid decarboxylase deficiency; ddc deficiency; deficiency of dopa decarboxylase
Patient organizations
- Pediatric Neurotransmitter Disease AssociationDeficiency of aromatic-L-amino-acid decarboxylase · United States
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