RUSP Presentation -Cost Analysis

Early treatment of GAMT Deficiency is effective and affordable


Benny was undiagnosed until 5 years of age. He attends a special education classroom where he requires 1:1 care. He battles seizures, Global Developmental Delays, is nonverbal, requires a communication device, and will need life-long care.

Late Diagnosis


Paige has been treated since birth. She is a 6 year old in the 1st grade, and has never required therapies. She has never needed interventions of any kind and attends a typical classroom. She has never had a seizure.

Newborn Diagnosis

Cost comparison: Newborn Screening and Treatment for GAMT vs. Lifelong Care

Lifelong Costs of Intellectually Disabled, Undiagnosed GAMT patient

GAMT is a Cerebral Creatine Deficiency Syndrome. If not treated at birth, this neurological disorder results in severe physical and cognitive disabilities. In 2003, RTI International and the CDC analyzed data from multiple surveys and reports to estimate the direct and indirect economic costs associated with Developmental Disabilities. On the basis of that analysis, the estimated lifetime costs for a person with intellectual disabilities is $1,312,314. Additionally, a GAMT patient will require mobility and speech devices, and continuous physical, speech, and neurological care due to their condition.

Cost of GAMT Diagnosis through Newborn Screening

According to the Utah pilot study, the cost to check each blood spot, including labor, materials and the extremely rare second tier testing, averaged out to be $0.49 per spot screened. The Utah pilot projects that the incidence of GAMT is approximately 1:120,000.

We can extrapolate from this that the cost to identify a GAMT patient is only $58,800.

Cost to Treat GAMT when Detected at Birth

Based on current standards for GAMT treatment, a child diagnosed at birth will only require daily oral supplementation of creatine, ornithine, and sodium benzoate. As shown in Figure 1- the total daily cost ranges from less than $0.93 in early childhood to around $3.50 in adolescent years. Total annual cost of treatment is $339.45 to $1,248.30.

Figure 1: Daily cost of oral supplementation

Cost of Oral Supplements

Daily Oral Supplements

Total daily costto treat

40 pound child $0.93

135 pound child $3.42

Creatine Monohydrate

Available at GNC, Whole Foods, and Amazon

$25.00 for 1,000 grams

earlyGAMT_cm 40 pound child $0.23 per day

135 pound child $0.67 per day


Available at JoMar,, and other sports supplement stores

Appx $45.00 for 500 grams

earlyGAMT_lo 40 pound child $0.59 per day

135 pound child $2.43 per day

Sodium Benzoate

Available at compounding pharmacies and Amazon

$35.00 for 1,000 grams

earlyGAMT_sb 40 pound child $0.11 per day

135 pound child $0.32 per day

Prepared by The Association for Creatine Deficiencies, 2016

Leave a Reply