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Nutrition – ScienceDirect.com

Posted: November 2, 2015 at 4:43 am


3-Hydroxy-isobutyryl-coenzyme A (CoA) hydrolase (HIBCH) deficiency is a rare cerebral organic aciduria caused by disturbance of valine catabolism that leads to the accumulation of toxic metabolites, methacrylyl-CoA.

To our knowledge, only four patients with HIBCH deficiency have been reported. These patients were boys and presented with different clinical, biochemical, and genetic features than our patient. As far as we know, our report describes the first case of a genetically confirmed girl with HIBCH deficiency in China, presented with combined defects of respiratory chain enzymes (complex V) and pyruvate dehydrogenase complex.

The special nutritional support regimen for the patient with HBICH deficiency is composed of a low valine diet and a special enteral nutrition (EN) formula. The diet contained adequate energy, appropriate protein-restricting valine, and micronutrients, and avoided food containing a large amount of valine, such as poultry, meat, egg and fish. The EN designed for methylmalonic acidemia or propionic aciduria-Maxamaind XM-2 came from Nutricia SHS international Company (Liverpool, United Kingdom) and contained a small amount of isoleucine and was free of valine, methionine, and threonine.

The goal of nutritional intervention for HBICH deficiency was to reduce toxic metabolites by restricting dietary valine to the proper level, allowing the patient to achieve and maintain plasma valine concentrations within normal ranges.

Some studies recommended 700 to 1100mg valine intake daily and 0.6 to 1.2g/kg whole protein intake daily for children ages 4 through 7 with valine metabolism disorder.

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Nutrition - ScienceDirect.com