Outcome of Inherited Metabolic Disorders Presenting in the Neonatal Period

Balakrishnan, Umamaheswari; Chandrasekaran, Ashok; Amboiram, Prakash; Ninan, Binu; Ignatious, Sebatini

doi:10.1007/s12098-020-03522-6

Indian J Pediatr

2020

DOI: 10.1007/s12098-020-03522-6

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Outcome of Inherited Metabolic Disorders Presenting in the Neonatal Period

Umamaheswari Balakrishnan

Ashok Chandrasekaran

Prakash Amboiram

et al.

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Cited by 3 publications

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“…Spearheaded by the ICMR task force, many states have initiated the NBS program including the state of Kerala [1,3]. The article by Balakrishnan et al is refreshing and provides a glimpse of the profile of inborn errors of metabolism in South India, detected by a combination of newborn screening (NBS, healthy babies) and those that were symptomatically detected (sick babies), after manifesting symptoms [4]. Balakrishnan et al, in their study, present a cohort of 33 newborns that were diagnosed with an IEM, and provide a follow-up for up to 12 mo of age.…”

mentioning

confidence: 99%

Rapid Detection and Treatment of Inborn Errors of Metabolism in the Newborn Period: Beginning of a New Trend

Bijarnia-Mahay

Roy

2021

Indian J Pediatr

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mentioning

confidence: 99%

Rapid Detection and Treatment of Inborn Errors of Metabolism in the Newborn Period: Beginning of a New Trend

Bijarnia-Mahay

Roy

2021

Indian J Pediatr

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Inborn Errors of Metabolism—Approach to Diagnosis and Management in Neonates

Balakrishnan

2021

Indian J Pediatr

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IGAm: A novel index predicting long-term survival in patients with early-diagnosed inherited metabolic disorders

Koç Yekedüz,

Köse,

Eminoğlu

2023

Journal of Pediatric Endocrinology and Metabolism

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Objectives The childhood mortality rate for IMDs is approximately 25 % in populations with no expanded newborn screening program. Although the factors that increase mortality risk are known, an index predicting long-term survival has yet to be established. Methods Two hundred sixty patients who were hospitalized during the first month of their life were screened, and 94 patients diagnosed with IMDs were included in the study. Clinical and laboratory data were assessed to identify any independent prognostic factors for overall survival. Results Among the 38 patients with IMDs in the exitus group, the presence of dysmorphism, extremity abnormalities, respiratory distress, cyanosis, elevated transaminases, elevated INR, hypoglycemia, hypoalbuminemia, metabolic acidosis, electrolyte imbalance and anemia were associated with poorer survival. Elevated INR (Hazard Ratio [HR]: 0.17, 95 % CI: 0.03–0.87, p=0.034), hypoglycemia (HR: 0.48, 95 % CI: 0.25–0.91, p=0.026) and hypoalbuminemia (HR: 0.09, 95 % CI: 0.03–0.26, p<0.001) were the independent prognostic factors for survival after adjusting for confounding factors. For the prediction of survival, INR, glucose, and albumin were used to structure a novel index (IGAm = INR-Glucose-Albumin metabolic index). The median survival was shorter in the IGAm-high group (2 or 3 points) than in the IGAm-low group (p<0.001). Harrell’s c-index was 0.73 for the IGAm index. Conclusions The devised novel IGAm index can predict long-term survival in patients with IMDs, with a high IGAm index being associated with higher mortality in patients with IMDs.

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Outcome of Inherited Metabolic Disorders Presenting in the Neonatal Period

Cited by 3 publications

References 22 publications

Rapid Detection and Treatment of Inborn Errors of Metabolism in the Newborn Period: Beginning of a New Trend

Rapid Detection and Treatment of Inborn Errors of Metabolism in the Newborn Period: Beginning of a New Trend

Inborn Errors of Metabolism—Approach to Diagnosis and Management in Neonates

IGAm: A novel index predicting long-term survival in patients with early-diagnosed inherited metabolic disorders

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