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Biochemical Screening of Intellectually Disabled Patients: A Stepping Stone to Initiate a Newborn Screening Program
Muhammad Wasim1,2, Haq Nawaz Khan1,2, Hina Ayesha3
1Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.
Insights
This study investigated treatable inborn errors of metabolism (IEMs) in Pakistani children with intellectual disabilities. Researchers identified several IEMs, including homocystinuria, suggesting a need for newborn screening programs in Pakistan.
Area of Science:
- Medical Genetics
- Biochemistry
- Public Health
Background:
- Inborn errors of metabolism (IEMs) are rare genetic disorders, with over 1,000 types identified.
- Approximately 200 IEMs are treatable if diagnosed early, often through newborn screening (NBS) programs.
- Establishing NBS in developing countries like Pakistan is challenging due to data scarcity and resource limitations.
Purpose of the Study:
- To determine the prevalence of treatable IEMs in intellectually disabled patients in Pakistan.
- To gather data to support the initiation of a newborn screening program for frequent IEMs in Pakistan.
Main Methods:
- Biochemical screening of 113 intellectually disabled patients (IQ <70) from a cohort of 429.
- Utilized advanced analytical techniques: Amino Acid Analyzer, GC-MS, UHPLC-MS, and MS/MS.
- Screened for aminoacidopathies, fatty acid β-oxidation disorders, and mucopolysaccharidoses (MPS).
Main Results:
- Diagnosed 14 patients with IEMs: 9 with homocystinuria, 2 with MPS, 2 with Guanidinoacetate methyltransferase (GAMT) deficiency, and 1 with sitosterolemia.
- Homocystinuria was the most frequent aminoacidopathy identified.
- These IEMs showed a notable frequency in the studied Pakistani cohort.
Conclusions:
- The study highlights the prevalence of treatable IEMs in Pakistan, particularly homocystinuria.
- Findings support the initiation of a targeted newborn screening program in Pakistan.
- Implementing NBS can lead to earlier diagnosis and treatment, improving patient outcomes and reducing societal burden.
Abstract:
Inborn errors of metabolism (IEMs) are rare group of genetic disorders comprising of more than 1,000 different types. Around 200 of IEMs are potentially treatable through diet, pharmacological and other therapies, if diagnosed earlier in life. IEMs can be diagnosed early through newborn screening (NBS) programs, which are in place in most of the developed countries. However, establishing a NBS in a developing country is a challenging task due to scarcity of disease related data, large population size, poor economy, and burden of other common disorders. Since, not enough data is available for the prevalence of IEMs in Pakistan; therefore, in this study, we set out to find the prevalence of various treatable IEMs in a cohort of intellectually disabled patients suspected for IEMs, which will help us to initiate a NBS program for the most frequent IEMs in Pakistan. Therefore, a total of 429 intellectually disabled (IQ <70) patient samples were collected from Pakistan. A subset of 113 patient samples was selected based on the clinical information for the detailed biochemical screening. Advance analytical techniques like, Amino Acid Analyzer, GC-MS, UHPLC-MS, and MS/MS were used to screen for different treatable IEMs like aminoacidopathies, fatty acid β-oxidation disorders and mucopolysaccharidoses (MPS) etc. A total of 14 patients were diagnosed with an IEM i.e., 9 with homocystinuria, 2 with MPS, 2 with Guanidinoacetate methyltransferase (GAMT) deficiency and 1 with sitosterolemia. These IEMs are found frequent in the collected patient samples from Pakistan. Thus, present study can help to take an initiative step to start a NBS program in Pakistan, especially for the homocystinuria having highest incidence among aminoacidopathies in the studied patients, and which is amenable to treatment. This endeavor will pave the way for a healthier life of affected patients and will lessen the burden on their families and society.
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