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Table 2 Characteristics of the patients with MCT1 deficiency

From: Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature

  van Hasselt, 2014 Al-Khawaga 2019 Nicolas-Jilwan, 2020; 2 siblings Balasubramaniam, 2015 Le, 2020
Ethnicity Syrian Irish Turkish British British British British Dutch Dutch nr nr nr British Sephardic Jewish
Consanguinity Yes No Yes        Yes Yes Yes   
Allele 1
(Variant/ Effect)
c.41dup
(p.Asp15Argfs*34)
c.937C > T
(p.Arg313*)
c.982C > T
(p.Arg328*)
c.586C > T
(p.Arg196*)
c.747_750del
(p.Asn250Serfs*5)
c.747_750del
(p.Asn250Serfs*5)
c.499del
(p.Val167Phefs*13)
c.490dup
(p.Leu164Profs*46)
c.938G > A
(p.Arg313Gln)†
c.218del
(p.Gly73Valfs*8)
c.1079del
(p.Ala360Glyfs*19)
Sibling of the previous patient (no genetic study performed) c.982C > T
(p.Arg328*)
c.41dup
(p.Asp15Argfs*34)
Allele 2
(Variant/ Effect)
c.41dup
(p.Asp15Argfs*34)
c.937C > T
(p.Arg313*)
c.982C > T
(p.Arg328*)
c.218del
(p.Gly73Valfs*8)
c.1079del
(p.Ala360Glyfs*19)
 
Metabolic derangement Profound ketoacidosis Profound ketoacidosis Profound ketoacidosis Cyclic vomiting Ketoacidosis Ketoacidosis Ketotic hypoglycemia Ketoacidosis Cyclic vomiting Recurrent attacks of hypoglycemia and metabolic acidosis; massive ketonuria, normal acid lactic Recurrent ketoacidosis, no hypoglycemia Recurrent ketoacidosis, hypoglycemia Recurrent ketoacidosis, no hypoglycemia Ketotic hypoglycemia on ketogenic diet
Metabolic screening Normal serum ammonia, lactate, pyruvate, amino acids, and acyl carnitine. Normal urine succinyl acetone, orotic, and organic acids Normal plasma lactate, and ammonia Normal serum ammonia and lactate. Massive ketonuria, increased urine 2- methyl-3-hydroxybutyrate, 2-methylacetoacetate and tiglylglycine
Brain MRI Heterotopia, white matter diffuse alterations. Normal spectroscopy (no lactate elevation) White matter diffuse alteration, including basal ganglia, corpus callosum agenesia White matter diffuse alteration, including basal ganglia, corpus callosum agenesia Normal
Epilepsy Yes Yes Yes Generalized tonic–clonic seizures Absent seizures
Psychomotor delay Moderate intellectual disability Moderate intellectual disability Mild intellectual disability Normal at the age of 18 months Motor and speech delay Developmental delay
Congenital malformations Atrial septal defect, hypoplastic left pulmonary artery, and main bronchus Cleft palate Left kidney agenesia
Intrauterine growth retardation
Others Microcephaly    Migraine Migraine    Short stature Exercise intolerance    Failure to thrive
Fatty liver
  Microcephaly
  1. The bold corresponds to biallelic pathogenic variants
  2. Variant nomenclature follows the recommendations of Human Genome Variation Society (HGVS) (https://varnomen.hgvs.org/)