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ADP/ATP carrier or AAC protein is the most abundant carrier protein in the inner mitochondrial membrane. It transports large quantities of ADP and ATP, equivalent to the average human body weight, every day. Among other transporters, ACC protein is one of the best-studied members of the mitochondrial carrier protein family. The ADP/ATP carrier protein comprises two transmembrane helices connected to a loop and a single alpha-helix on the matrix side. It switches between two conformational...
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Creatine transporter deficiency: Novel mutations and functional studies.

O Ardon1, M Procter2, R Mao1

  • 1Research and Development, ARUP Laboratories, Salt Lake City, UT, USA; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA; Department of Pathology, University of Utah, Salt Lake City, UT, USA.

Molecular Genetics and Metabolism Reports
|July 14, 2016
PubMed
Summary

X-linked creatine transporter deficiency, a rare genetic disorder, affects brain development. This study identifies three new cases in Israel, highlighting the importance of genetic testing for developmental delays.

Keywords:
Creatine deficiencyCreatine transportCreatine transporter deficiencyHELA cellsHuman fibroblastsSLC6A8

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Area of Science:

  • Genetics
  • Neurology
  • Biochemistry

Background:

  • X-linked creatine transporter deficiency (OMIM 300036) results from mutations in the SLC6A8 gene, impacting creatine transport into the brain.
  • This condition is associated with global developmental delays and language apraxia.

Observation:

  • Three unrelated Israeli patients presented with developmental delays and language apraxia.
  • Brain MRI and spectroscopy revealed normal white matter but an absent creatine peak.
  • Biochemical tests showed normal plasma creatine but an elevated urine creatine/creatinine ratio.

Findings:

  • Absent creatine transport was confirmed in patient fibroblasts.
  • Molecular analysis identified distinct SLC6A8 gene mutations in each patient, including missense, deletion, and splice-site variants.
  • These represent the first reported cases of creatine transporter deficiency in Israel.

Implications:

  • Early diagnosis of creatine transporter deficiency is crucial for managing developmental disorders.
  • Genetic and biochemical testing are vital for identifying SLC6A8 mutations.
  • This study expands the known geographic distribution and mutational spectrum of this rare X-linked disorder.