Monocarboxylate transporter 1 deficiency is an autosomal recessive of dominant disorder caused by loss-of-function mutations of the SLC16A1 gene. Patients develop severe ketoacidosis provoked by fasting or infections. The recessive form may also result in developmental delay.
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van Hasselt PM et al. (2014) Monocarboxylate transporter 1 deficiency and ketone utilization. |
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Orphanet article Orphanet ID 165991 |
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OMIM.ORG article Omim 616095 |