Genetics of Neonatal Hypoglycaemia

Area of Science:

• Neonatology
• Medical Genetics
• Endocrinology

Background:

• Hypoglycaemia is the most frequent metabolic complication in newborns.
• Persistent neonatal hypoglycaemia can indicate underlying genetic disorders, leading to significant morbidity.
• Immature liver glucose storage is a common cause, particularly in preterm or growth-restricted infants.

Purpose of the Study:

• To review and catalogue syndromic forms of neonatal hypoglycaemia.
• To highlight the importance of genotype-phenotype correlation in diagnosing genetic causes.
• To emphasize the need for comprehensive and rapid testing due to the risk of brain damage.

Main Methods:

• Literature review of syndromic forms of neonatal hypoglycaemia.
• Analysis of genetic heterogeneity and diagnostic challenges.
• Discussion of clinical implications and diagnostic approaches.

Main Results:

• Neonatal hypoglycaemia is often linked to gene- and allele-heterogeneous genetic disorders.
• The contribution of hypoglycaemia to various genetic syndromes has been underestimated.
• Detailed genotype-phenotype classification is vital for improved neonatal healthcare and screening.

Conclusions:

• Early identification and diagnosis of neonatal hypoglycaemia are critical for preventing long-term neurological sequelae.
• Recognizing syndromic forms aids in timely diagnosis and management of genetic metabolic disorders.
• This review provides a valuable resource for clinicians and researchers focusing on neonatal metabolic health.