AUTISM, SUSCEPTIBILITY TO, 3
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(OMIM:608049)
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Acyl-CoA dehydrogenase 9 deficiency
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(Orphanet:99901)
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Carnitine uptake deficiency
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(Orphanet:158)
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ENCEPHALOMYOPATHY, MITOCHONDRIAL, DUE TO VOLTAGE-DEPENDENT ANION CHANNELDEFICIENCY
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(OMIM:614520)
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Glutaryl-CoA dehydrogenase deficiency
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(Orphanet:25)
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Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
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(Orphanet:401948)
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Isolated 3-methylcrotonyl-CoA carboxylase deficiency
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(Orphanet:6)
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Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
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(Orphanet:308425)
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Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
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(Orphanet:314637)
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Multiple acyl-CoA dehydrogenase deficiency
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(Orphanet:26791)
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Neonatal intrahepatic cholestasis due to citrin deficiency
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(Orphanet:247598)
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Pearson syndrome
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(Orphanet:699)
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Pyruvate dehydrogenase E3 deficiency
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(Orphanet:2394)
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Rabson-Mendenhall syndrome
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(Orphanet:769)
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Richards-Rundle syndrome
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(Orphanet:1399)
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Succinyl-CoA:3-ketoacid CoA transferase deficiency
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(Orphanet:832)
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Vitamin B12-responsive methylmalonic acidemia
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(Orphanet:28)
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Vitamin B12-responsive methylmalonic acidemia type cblB
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(Orphanet:79311)
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