Short answer · Medically reviewed summary · Last updated: 2026-04-07
Succinic semialdehyde dehydrogenase deficiency (SSADH deficiency) is classified under the ICD-10 code E72.59 (Other disorders of glycine metabolism) and the ICD-9 code 270.4 (Disturbances of amino-acid metabolism). Because this is a rare metabolic disorder, these codes are often used for billing and administrative purposes as there is no single, disease-specific code assigned exclusively to this condition. What is Succinic semialdehyde dehydrogenase deficiency? Succinic semialdehyde dehydrogenase deficiency is a rare autosomal recessive metabolic disorder caused by mutations in the ALDH5A1 gene.
ICD10 code of Succinic semialdehyde dehydrogenase deficiency and ICD9 code
ICD-10 and ICD-9 codes for Succinic semialdehyde dehydrogenase deficiency, with classification details for clinicians, coders and patients.
Succinic semialdehyde dehydrogenase deficiency (SSADH deficiency) is classified under the ICD-10 code E72.59 (Other disorders of glycine metabolism) and the ICD-9 code 270.4 (Disturbances of amino-acid metabolism). Because this is a rare metabolic disorder, these codes are often used for billing and administrative purposes as there is no single, disease-specific code assigned exclusively to this condition.
What is Succinic semialdehyde dehydrogenase deficiency?
Succinic semialdehyde dehydrogenase deficiency is a rare autosomal recessive metabolic disorder caused by mutations in the ALDH5A1 gene. This genetic defect leads to the accumulation of 4-hydroxybutyric acid (GHB) in the brain and bodily fluids, which significantly impacts the central nervous system. Patients with Succinic semialdehyde dehydrogenase deficiency typically present with a spectrum of symptoms including developmental delay, intellectual disability, hypotonia, and epilepsy. It is estimated that fewer than 500 cases have been identified worldwide, though the true prevalence is likely higher due to underdiagnosis.
How are the ICD codes used for this condition?
The medical coding system is essential for healthcare providers and researchers to track patient populations. For Succinic semialdehyde dehydrogenase deficiency, the lack of a highly specific code means that clinical documentation must clearly state the diagnosis in the medical record to ensure proper insurance coverage and clinical tracking. In the DiseaseMaps.org community, where 13 people with Succinic semialdehyde dehydrogenase deficiency have shared their experiences, families often note that navigating the insurance landscape requires clear communication with geneticists to ensure the correct metabolic codes are applied to facilitate access to specialized care.
What are the core clinical features of this condition?
The clinical presentation of Succinic semialdehyde dehydrogenase deficiency is highly variable, ranging from mild learning difficulties to severe neurological impairment. Clinicians typically monitor for the following key features:
- Developmental delays: Often noted in speech and motor skill acquisition during early childhood.
- Neurological symptoms: Chronic hypotonia (low muscle tone), ataxia (lack of coordination), and seizures are common.
- Behavioral challenges: Many patients experience ADHD, obsessive-compulsive behaviors, and sleep disturbances.
- Metabolic markers: Diagnosis is usually confirmed by finding elevated levels of 4-hydroxybutyric acid in urine or plasma.
Is there support for families navigating a diagnosis?
Receiving a diagnosis of Succinic semialdehyde dehydrogenase deficiency can be overwhelming. Because this is a rare genetic condition, patients and caregivers often find significant emotional support by connecting with others who understand the day-to-day challenges of managing a metabolic disorder. Engaging with specialized advocacy groups and connecting with the 13 members currently active on DiseaseMaps.org can provide a sense of community and shared knowledge that is vital for long-term care management.
Next steps
- Consult with a metabolic geneticist or a pediatric neurologist to confirm testing results and discuss potential therapeutic interventions.
- Request a referral to a metabolic dietitian to manage nutritional needs, as some patients require specialized dietary support.
- Join a patient advocacy organization, such as the SSADH Association, to stay informed about the latest clinical research and potential treatment trials.
- Document all symptoms and developmental milestones to share with your multidisciplinary care team.
Medical disclaimer: This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment; always seek the advice of your physician or other qualified health provider with any questions regarding a medical condition.
