Highlighting the Importance of Newborn Screening in India by Comparative Analysis of IEMs in High-Risk Babies with Methylmalonic Acidemia (MMA)
Authors/Creators
Contributors
- 1. 1MILS International India, Navigene Genetic Science Lab, Mumbai & Shri JJT University, Jhunjhunu Rajasthan – 333010 2 Shri JJT University, Jhunjhunu Rajasthan – 333010
Description
This is a comparative analysis of
7789 high-risk IEM cases, using the example
of methylmalonic acidemia (MMA), a rare
metabolic disorder to emphasize the critical
role of newborn screening in early diagnosis
and management. Case 1 involves a patient not
diagnosed at birth through newborn screening,
while Case 2 involves a patient diagnosed in the
neonatal period due to symptom presentation. The
differences in their clinical outcomes underline the
importance of early detection through newborn
screening programs. The MMA was the most
common organic aciduria with an incidence of
1:26 diagnosed among 12 common IEMs causing
developmental delay, disabilities, or death in
high-risk neonates & children. These 12 IEMs
(incidence 1: 26 to 409) with high incidence are
strongly recommended as candidate disorders for
newborn screening programs in India. This paper
compares two cases of MMA to illustrate the
significant impact of newborn screening.
Files
CASE REPORT-5 (REVISED).pdf
Files
(277.3 kB)
| Name | Size | Download all |
|---|---|---|
|
md5:8c53b7193b724ec7b8d9f94332b2383b
|
277.3 kB | Preview Download |
Additional details
Dates
- Accepted
-
2024-09-26
References
- 1. Hörster F, Garbade SF, Zwickler T, Aydin HI, Bodamer OA, Burlina AB, Das AM, De Klerk JBC, Dionisi-Vici C, Geb S, Gökcay G, Guffon N, Maier EM, Morava E, Walter JH, Schwahn B, Wijburg FA, Lindner M, Grünewald S, Baumgartner MR, Kölker S. Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters. J Inherit Metab Dis. 2009;32(5):630. 2. Qiliang L, Wenqi S, Quan W, Xinying Y, Jiuwei L, Qiang S, Xiaoxia P, Peichang W. Predictors of survival in children with methylmalonic acidemia with homocystinuria in Beijing, China: a prospective cohort study. Indian Pediatr. 2015;52(2):119-124. 3. Riphagen IJ, Minović I, Groothof D, Post A, Eggersdorfer ML, Kootstra-Ros JE, de Borst MH, Navis G, Muskiet FAJ, Kema IP, Heiner-Fokkema MR, Bakker SJL. Methylmalonic acid, vitamin B12, renal function, and risk of all-cause mortality in the general population: results from the prospective Lifelines-MINUTHE study. BMC Med. 2020;18(1):380. 4. Barahate S, Chandel A, Kolhe S, Chauhan V, Jain M. Early neonatal presentation of methylmalonic aciduria: a case report from rural central India. Int J ContempPediatr. 2023;10:587-589. 5. Dave U. Genetic Counseling Approach in Inborn Errors of Metabolism. In: Genetic Counseling: Clinical and Laboratory Approach. Editors : Usha Dave & Dhanalaxmi Shetty Jaypee Brothers Medical Publishers; 2021. Chapter 17, p. 219-233. 6. Matsumoto I, Kuhara T. A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry—rapid, practical, and simultaneous urinary metabolites analysis. MassSpectrom Rev. 1996;15(1):43-57.