Format

Send to

Choose Destination
Orphanet J Rare Dis. 2015 Sep 24;10:120. doi: 10.1186/s13023-015-0342-6.

Ketogenic diet in a patient with congenital hyperinsulinism: a novel approach to prevent brain damage.

Author information

1
Metabolic Unit, Department of Pediatric Medicine, Bambino Gesù Children's Hospital, piazza S. Onofrio 4, 00165, Rome, Italy. arianna.maiorana@opbg.net.
2
Metabolic Unit, Department of Pediatric Medicine, Bambino Gesù Children's Hospital, piazza S. Onofrio 4, 00165, Rome, Italy. lucilla.manganozzi@hotmail.it.
3
Department of Experimental Medicine, University of Tor Vergata and Bambino Gesù Children's Hospital, Rome, Italy. fabrizio.barbetti@uniroma2.it.
4
Clinical Nutrition, Gastroenterology Department, Bambino Gesù Children's Hospital, Rome, Italy. silviamaria.bernabei@opbg.net.
5
Metabolic Unit, Department of Pediatric Medicine, Bambino Gesù Children's Hospital, piazza S. Onofrio 4, 00165, Rome, Italy. giorgia.gallo@opbg.net.
6
Neurology, Neuroscience Department, Bambino Gesù Children's Hospital, Rome, Italy. raffaella.cusmai@opbg.net.
7
Psychology Unit, Neuroscience Department, Bambino Gesù Children's Hospital, Rome, Italy. stefania.caviglia@opbg.net.
8
Metabolic Unit, Department of Pediatric Medicine, Bambino Gesù Children's Hospital, piazza S. Onofrio 4, 00165, Rome, Italy. carlo.dionisivici@opbg.net.

Abstract

BACKGROUND:

Congenital hyperinsulinism (CHI) is the most frequent cause of hypoglycemia in children. In addition to increased peripheral glucose utilization, dysregulated insulin secretion induces profound hypoglycemia and neuroglycopenia by inhibiting glycogenolysis, gluconeogenesis and lipolysis. This results in the shortage of all cerebral energy substrates (glucose, lactate and ketones), and can lead to severe neurological sequelae. Patients with CHI unresponsive to medical treatment can be subjected to near-total pancreatectomy with increased risk of secondary diabetes. Ketogenic diet (KD), by reproducing a fasting-like condition in which body fuel mainly derives from beta-oxidation, is intended to provide alternative cerebral substrates such ketone bodies. We took advantage of known protective effect of KD on neuronal damage associated with GLUT1 deficiency, a disorder of impaired glucose transport across the blood-brain barrier, and administered KD in a patient with drug-unresponsive CHI, with the aim of providing to neurons an energy source alternative to glucose.

METHODS:

A child with drug-resistant, long-standing CHI caused by a spontaneous GCK activating mutation (p.Val455Met) suffered from epilepsy and showed neurodevelopmental abnormalities. After attempting various therapeutic regimes without success, near-total pancreatectomy was suggested to parents, who asked for other options. Therefore, we proposed KD in combination with insulin-suppressing drugs.

RESULTS:

We administered KD for 2 years. Soon after the first six months, the patient was free of epileptic crises, presented normalization of EEG, and showed a marked recover in psychological development and quality of life.

CONCLUSIONS:

KD could represent an effective treatment to support brain function in selected cases of CHI.

PMID:
26399329
PMCID:
PMC4581011
DOI:
10.1186/s13023-015-0342-6
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for BioMed Central Icon for PubMed Central
Loading ...
Support Center