Dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). A case report and survey

Melanie Gillingham, S. Van Calcar, D. Ney, J. Wolff, Cary Harding

Research output: Contribution to journalArticle

66 Citations (Scopus)

Abstract

Current dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD; long-chain-(S)-3-hydroxyacyl-CoA: NAD+ oxidoreductase, EC 1.1.1.211) deficiency (LCHADD) is based on avoiding fasting, and minimizing energy production from long-chain fatty acids. We report the effects of various dietary manipulations on plasma and urinary laboratory values in a child with LCHADD. In our patient, a diet restricted to 9% of total energy from long-chain fatty acids and administration of 1.5 g medium-chain triglyceride oil per kg body weight normalized plasma acylcarnitine and lactate levels, but dicarboxylic acid excretion remained approximately ten times normal. Plasma docosahexaenoic acid (DHA, 22:6n - 3) was consistently low over a 2-year period; DHA deficiency may be related to the development of pigmentary retinopathy seen in this patient population. We also conducted a survey of metabolic physicians who treat children with LCHADD to determine current dietary interventions employed and the effects of these interventions on symptoms of this disease. Survey results indicate that a diet low in long-chain fatty acids, supplemented with medium-chain triclyceride oil, decreased the incidence of hypoketotic hypoglycaemia, and improved hypotonia, hepatomegaly, cardiomyopathy, and lactic acidosis. However, dietary treatment did not appear to effect peripheral neuropathy, pigmentary retinopathy or myoglobinuria.

Original languageEnglish (US)
Pages (from-to)123-131
Number of pages9
JournalJournal of Inherited Metabolic Disease
Volume22
Issue number2
DOIs
StatePublished - 1999
Externally publishedYes

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3-Hydroxyacyl-CoA Dehydrogenase
Retinitis Pigmentosa
Fatty Acids
Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase
Oils
Myoglobinuria
Diet
Dicarboxylic Acids
Lactic Acidosis
Muscle Hypotonia
Hepatomegaly
Docosahexaenoic Acids
Peripheral Nervous System Diseases
Coenzyme A
Cardiomyopathies
Hypoglycemia
NAD
Lactic Acid
Fasting
Oxidoreductases

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Endocrinology

Cite this

Dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). A case report and survey. / Gillingham, Melanie; Van Calcar, S.; Ney, D.; Wolff, J.; Harding, Cary.

In: Journal of Inherited Metabolic Disease, Vol. 22, No. 2, 1999, p. 123-131.

Research output: Contribution to journalArticle

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