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Ketoacidosis due to monocarboxylate transporter-1 deficiency(MCT1D)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Monocarboxylate transporter 1 deficiency
SNOMED CT: Ketoacidosis due to monocarboxylate transporter-1 deficiency (1216941002)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Gene (location): SLC16A1 (1p13.2)
Monarch Initiative: MONDO:0014490
OMIM®: 616095
Orphanet: ORPHA438075


A rare disorder of ketone body transport characterized by recurrent episodes of ketoacidosis provoked by fasting or infections in the first years of life. The episodes are typically preceded by poor feeding and vomiting and are associated with dehydration, in severe cases also with decreased consciousness and insufficient respiratory drive. Hypoglycemia is observed only infrequently. Patients with homozygous mutations tend to present at a younger age, have more profound ketoacidosis, and may show mild to moderate developmental delay in addition. [from SNOMEDCT_US]

Clinical features

From HPO
MedGen UID:
Concept ID:
High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state.
Feeding difficulties
MedGen UID:
Concept ID:
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Global developmental delay
MedGen UID:
Concept ID:
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Intellectual disability
MedGen UID:
Concept ID:
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
MedGen UID:
Concept ID:
Disease or Syndrome
Acidosis resulting from accumulation of ketone bodies.
Ketotic hypoglycemia
MedGen UID:
Concept ID:
Disease or Syndrome
Low blood glucose is accompanied by elevated levels of ketone bodies in the body.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVKetoacidosis due to monocarboxylate transporter-1 deficiency

Recent clinical studies


Bozacı AE, Ünal AT
Turk J Pediatr 2022;64(4):741-746. doi: 10.24953/turkjped.2021.4915. PMID: 36082648
Nicolas-Jilwan M, Medlej R, Sulaiman RA, AlSayed M
Neuroradiology 2020 Jul;62(7):891-894. Epub 2020 Apr 21 doi: 10.1007/s00234-020-02435-7. PMID: 32318771

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