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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase

Figure 1

HIBCH deficiency leads to accumulation of hydroxy-C4-carnitine. (a) Valine degradation pathway. 3-Hydroxy-isobutyrylCoA hydrolase (HIBCH) catalyses the fifth step of valine catabolism. HIBCH deficiency leads to accumulation of 3-hydroxy-isobutyryl carnitine, which is detected as hydroxy-C4-carnitine by tandem mass spectrometry. (b) Plasma acylcarnitine analysis by tandem mass spectrometry. Left panel: normal acylcarnitine profile; Right panel: acylcarnitine profile from Patient 2 with accumulating hydroxy-C4-carnitine indicated by arrow.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172