Family Perspectives
There is plenty of scientific information online.
Let us tell you about ADSLD from our perspective.
ADSLD at a Glance
A person with ADSLD is deficient in the enzyme ADSL, which is part of a complex process that converts the foods we eat into usable building blocks of DNA and RNA called nucleosides. It also plays a role in other metabolic processes. Not only does this force the body to work harder to make these crucial nucleosides, but a by-product of the dysfunction of the enzyme is a toxin called SAICAr. Current research shows that the ratio of SAICAr levels to another compound called S-Ado correlates to the severity of observable symptoms (also referred to as a phenotype). There is still a lot to learn about how this disorder works, and how it may be treated or cured in the future. Estimated prevalence globally is 1 in 1,240,710 (source).
Common Symptoms
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Psychomotor Delay - this affects how the brain and body work together to move
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Low, High, or Mixed Muscle Tone - similar symptoms are found in people with cerebral palsy
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Microcephaly - small head
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Epilepsy - Seizures that are often hard to treat with medications
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Autistic Behaviors - 'Stimming', repetitive movements, lack of eye contact
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Cortical Visual Impairment - The eye itself functions, but communication with the brain is impaired
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Speech Delay or No Speech
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Muscle Wasting - Progressive loss of muscle tissue
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Difficulty Feeding - Some children require a G-Tube
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Limited Life Span - Life span is variable. The oldest known case is in their 60's.
Types of ADSLD
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Type 1 (Severe) - Symptoms begin from birth or in the first few months of life and are more severe. CVI (Cortical Visual Impairment) is more common in this type. Coma Vigil (or a vegetative state) can occur.
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Type 2 (Mild to Moderate) - Symptoms begin in the first years of life and are more mild. Epilepsy may not be present or may appear later. Some speech may be present.
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Fatal Neo-Natal - Encephalopathy (brain dysfunction) causes respiratory failure and intractable seizures in infancy leading to death
Treatment
Your doctor will tell you there is no treatment and the best you can do is manage symptoms as they arise. While this is true, a team of passionate parents are working on a potential drug treatment that was found through a drug repurposing screening lab called Perlara. Click the button below to read the Substack Article about Phase 1 of our journey with Perlara.
