Reconciling diabetes management and the ketogenic diet in a child with pyruvate dehydrogenase deficiency.

[pyruvate dehydrogenase deficiency]

A 4 -year -old girl with pyruvate dehydrogenase deficiency , static encephalopathy , and seizure disorder treated with the ketogenic diet presented in severe diabetic ketoacidosis . Pyruvate dehydrogenase deficiency is a rare genetic defect of mitochondrial energy metabolism that leads to inefficient glucose use and lactic acidosis . The ketogenic diet provides the brain with an alternate fuel source , but its implementation opposes traditional diabetes management . Faced with this therapeutic dilemma , we aimed to maintain ketosis without compromising safety to optimize neurologic function and quality of life . This is the first report , to our knowledge , of a child simultaneously treated with the ketogenic diet and exogenous insulin . A 28 -month follow-up revealed excellent glycemic control , improved activity level , significant developmental achievements , and , perhaps most striking , catch-up linear growth from < 5 th percentile to the 50 th percentile . Her progress to date indicates that diabetes does not preclude use of the ketogenic diet .

Diseases
Validation

Diseases presenting "first report" symptom

achondroplasia

alexander disease

aniridia

cadasil

canavan disease

child syndrome

cohen syndrome

congenital toxoplasmosis

cowden syndrome

cushing syndrome

cutaneous mastocytosis

cystinuria

dedifferentiated liposarcoma

dentinogenesis imperfecta

dracunculiasis

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erdheim-chester disease

esophageal squamous cell carcinoma

fabry disease

familial mediterranean fever

focal myositis

harlequin ichthyosis

hirschsprung disease

hodgkin lymphoma, classical

holt-oram syndrome

homocystinuria without methylmalonic aciduria

inclusion body myositis

junctional epidermolysis bullosa

kabuki syndrome

kindler syndrome

krabbe disease

lamellar ichthyosis

liposarcoma

lymphangioleiomyomatosis

monosomy 21

neonatal adrenoleukodystrophy

neuralgic amyotrophy

oculocutaneous albinism

oligodontia

omenn syndrome

pendred syndrome

pleomorphic liposarcoma

primary hyperoxaluria type 1

pyomyositis

pyruvate dehydrogenase deficiency

scrub typhus

severe combined immunodeficiency

sneddon syndrome

triple a syndrome

typhoid

waldenström macroglobulinemia

werner syndrome

wiskott-aldrich syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

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