Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect?

Annals of Neurology

Volumn 49, Issue 3, 2001, Pages 401-404

  Cecil, Kim M ^a,c   Salomons, Gajja S ^a   Ball Jr , William S ^b   Wong, Brenda ^b   Chuck, Gail ^a   Verhoeven, Nanda M ^b   Jakobs, Cornelis ^a   Degrauw, Ton J ^a  

^a UNIVERSITY OF CINCINNATI   (United States)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACETIC ACID DERIVATIVE; CREATINE;

ARTICLE; CASE REPORT; CENTRAL NERVOUS SYSTEM; CHILD; CREATINE DEFICIENCY; ENERGY METABOLISM; HUMAN; MALE; METABOLIC DISORDER; NEUROLOGIC DISEASE; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; SYMPTOMATOLOGY;

BRAIN; CHILD; CREATINE; HUMANS; MAGNETIC RESONANCE SPECTROSCOPY; MALE; METABOLISM, INBORN ERRORS;

EID: 0035098030     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.79     Document Type: Article

References (27)

1. Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: Diagnosric rools for a new inborn error of merabolism
2. Guanidinoacetate merhylransferase deficiency: New clinical features
3. Guanldlnoacetate methyltransferase deficiency: The first inborn error of crearine metabolism in man
4. Creatine deficiency in the brain: A new, treatable inborn error of metabolism
5. Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect
6. Increase of methylguanidine and guanidinoacetic acid in the brain of amygdala-kindled rats
7. Absolute concentrations of water and metabolites in human brain. II Metabolite concentrations
8. Guanidinoacetate methyltransferase deficiency: A newly recognized inborn error of creatine biosynthesis
9. Increase of total creatine in human brain after oral supplementation of creatinemonohydrate
10. The synthesis of creatine by the brain of the intact rat
11. Metabolism of glycine in primary astroglial cells: Synthesis of creatine, serine, and glutathione
12. Assignment of the creatlne transporter gene (SLC6A8) to human chromosome Xq28 telomeric to G6PD
13. The cloning and expression of a human creatine transporter
14. Cloning, pharmacological characterization, and genomic localization of the human creatine transporter
15. Creatine and creatinine metabolism
16. Creatine transport in cultured cells of rat and mouse brain
17. +)-dependent creatine transporter in rabbit brain, muscle, heart, and kidney, cDNA cloning and functional expression
18. Regional distribution of a creatine transporter in rat auditory, brainstem: An insitu hybridization study
19. The putative rat choline transporter CHOT1 transports creatine and is highly expressed in neural and muscle-rich tissues
20. Identification of a testisexpressed creatine transporter gene at 16p11.2 and confirmation of the X-linked locus to Xq28
21. Duplication of a gene-rich cluster between 16p11.1 and Xq28: A novel pericentromeric-directed mechanism for paralogous genome evolution
22. Reversible brain creatine deficiency, in two sisters with normal blood creatine level
23. Crearine supplementation in health and disease. Effects of chronic crearine ingestion in vivo: Down-regulation of the expression of creatine transporter isoforms in skeletal muscle
24. Neuroprotective effects of creatine in a transgenic animal model of amyotrophic lateral sclerosis
25. Creatine and cyclocreatlne attenuate MPTP neurotoxicity
26. Neuroprotective effects of creatine in a transgenic mouse model of Huntington's disease
27. Neuroprotective effects of creatine administration against NMDA and malonate toxicity