Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Monocarboxylate transporter 1 deficiency

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.

Systematic

Aminoaciduria
Cystinuria
Dicarboxylic aminoaciduria
Erythrocyte lactate transporter defect
Fanconi renotubular syndrome
Fanconi-Bickel syndrome
Hartnup disorder
Hyperglycinuria
Iminoglycinuria
Lysinuric protein intolerance
Monocarboxylate transporter 1 deficiency
SLC16A1
SLC36A1
SLC3A2
SLC6A18
SLC7A8

References:

1.

van Hasselt PM et al. (2014) Monocarboxylate transporter 1 deficiency and ketone utilization.

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2.

Orphanet article

Orphanet ID 165991 [^]
3.

OMIM.ORG article

Omim 616095 [^]
Update: April 29, 2019