Precision diagnosis guides ketogenic diet therapy in inherited metabolic epilepsies: Concurrent non-ketotic hyperglycinemia and biotinidase deficiency.

Ketogenic diet therapy in developmental and epileptic encephalopathies: toward syndrome- and gene-informed precision therapy

Background Developmental and epileptic encephalopathies (DEEs) are severe, early-onset, frequently drug-resistant epilepsies in which recurrent seizures and epileptiform activity contribute to cognitive impairment beyond the underlying etiology. Ketogenic dietary therapies (KDTs) exert broad, multimodal antiseizure and...

Beyond the classic ketogenic diet: A systematic review of alternative and adjunctive therapies for GLUT1 deficiency syndrome.

BACKGROUND Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a rare, paediatric onset, neurometabolic disorder caused by impaired cerebral glucose transport, leading to chronic brain energy deficiency. The classic ketogenic diet (CKD) is its established cornerstone therapy but it is not universally effective...

Refractory diabetic ketoacidosis in Rabson–Mendenhall syndrome due to a novel mutation: contrasting outcomes in a sibling – case series

Abstract Objectives Rabson–Mendenhall syndrome (RMS) is a rare monogenic insulin resistance disorder characterized by progressive dysglycemia and early mortality. Management of diabetic ketoacidosis (DKA) in RMS is particularly challenging because standard insulin doses may be inadequate, and pediatric-specific experie...

Ketone metabolism defects in childhood: a spectrum of overlapping presentations and clinical features

HMGCS2 deficiency, BKTD, and SCOT deficiency show overlapping features but can be distinguished by ketone levels, glucose patterns, and acylcarnitine profiles.

[Effectiveness and tolerability of ketogenic diet therapy in children with genetic developmental and epileptic encephalopathy onset within 2 years of age].

Managing Drug‐Resistant Epilepsy and Severe Feeding Difficulties in Miller–Dieker Syndrome: The Role of Enteral Ketogenic Diet

Miller–Dieker syndrome (MDS) is a rare genetic disorder characterized by classical lissencephaly, severe neurodevelopmental impairment, and early‐onset drug‐resistant epilepsy. Feeding difficulties and aspiration pneumonia significantly contribute to morbidity and mortality. Evidence regarding ketogenic diet (KD) thera...