A Concise Review of Ketogenic Dietary Interventions in the Management of Rare Diseases

Table 4

Summary of case report and case series found in the literature regarding use of KD in mitochondrial disorders.

Mitochondrial disorder	Author	Year	Patient characteristics	Traditional treatment method	Dietary modification	Results
Pyruvate dehydrogenase complex deficiency	Falk et al. [40]	1976	Two brothers, aged 11 years 6 months and 2 years 3 months, with psychomotor and growth retardation, episodes of weakness, ataxia, ophthalmoplegia, and elevated levels of blood pyruvate	Standard glucose meal	Ketogenic diet.	Fall in blood pyruvate levels, a decrease in the frequency and severity of the episodes of neurological deterioration, an increased rate of growth and development in the younger brother, and increased strength and endurance in the older one.
	Sofou et al. [41]	2017	19 patients (3 boys and 16 girls)	Usual diet	Ketogenic diet (2.5 : 1 fat : carbohydrate plus protein) for a median of 2.9 years.	The treatment had a positive effect mainly in the areas of ataxia, sleep disturbance, speech/language development, social functioning, and frequency of hospitalizations. It was also safe—except in one patient who discontinued because of acute pancreatitis.
	Chida et al. [42]	2018	A 11-year-old girl	Medium-chain triglyceride (MCT) formula and a trace mineral supplemental drink.	Ketone formula was begun at 50 g/1,200 mL, four times per day; the amount was gradually increased to 76 g/1,200 mL, four times per day with a regular checkup of total ketone body level.	Seizure frequency markedly decreased, but the electroencephalogram findings, which included a spike-and-wave pattern arising from the bilateral occipital region and expanding throughout the region, did not markedly improve after the introduction of the KD.
	El-Gharbawy et al. [43]	2011	A 15-month-old boy	Breast feeding	Meals with a ketogenic ratio (KR) of 4 : 1 fat (grams) : protein plus carbohydrate (grams). Later, to improve compliance, the KR of meals was decreased to 3 : 1, and medium-chain triglyceride (MCT) oil was added.	Seizures and hyperventilation ceased.
Mitochondrial DNA depletion syndromes	Joshi et al. [44]	2009	A 31-month-old girl with Alpers-Huttenlocher syndrome	Usual diet	Ketogenic diet.	Improvement in clinically, and her electroencephalogram improved dramatically.
	Cardenas et al. [45]	2010	A 14-month-old baby girl with compound heterozygous polymerase gamma gene mutation	Usual diet	Ketogenic diet.	Reduction in seizure frequency.