P17.6 X-linked creatine transport deficiency in five patients with behavioral abnormalities, mental retardation and/or epilepsy

Kara, Bülent; Caliskan, Muhammed Nebi; Anık, Yonca; Gökçay, Gülden

doi:10.1016/s1090-3798(11)70347-6

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“…In this study, we found that patients with autism from Saudi Arabia had raised levels of plasma Cr compared with age-matched controls (Table 1 ; Figure 2 ; Figure 3 ). Increased plasma Cr could be due to defective Cr transport to the brain, a suggestion supported by recent work by Kara et al [ 33 ], in which they showed that cerebral Cr deficiency (as detected in vivo by magnetic resonance spectroscopy (MRS) of the brain) and specific disturbances in metabolites of Cr metabolism in body fluids was linked to mental retardation, expressive speech and language delay, epilepsy, developmental delay, and autistic behavior [ 33 ]. In addition, autistic features were seen in patients with guanidinoacetate methyltransferase (GAMT) deficiency as an inborn error of Cr biosynthesis.…”

Section: Discussionmentioning

confidence: 93%

Mechanism of nitrogen metabolism-related parameters and enzyme activities in the pathophysiology of autism

Shmais

Al-Ayadhi

Al-Dbass

et al. 2012

J Neurodevelop Disord

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BackgroundThere is evidence that impaired metabolism play an important role in the etiology of many neuropsychiatric disorders. Although this has not been investigated to date, several recent studies proposed that nitrogen metabolism-related parameters may have a pathophysiological role in autism.MethodsThe study enrolled 20 Saudi boys with autism aged 4 to 12 years and 20 healthy controls matched for age and gender. Levels of creatine, urea, ammonia, gamma-aminobutyric acid (GABA), glutamate:glutamine (Glu:Gln) ratio, and enzymatic activities of glutamate dehydrogenase, 5'-nucleotidase, and adenosine deaminase (ADA) were determined in plasma samples from both groups.ResultsWe found a significant elevation of creatine, 5'-nucleotidase, GABA, and glutamic acid and a significant decrease in the enzymatic activity of ADA and glutamine level in patients with autism compared with healthy controls. The most significant variation between the two groups was found in the Glu:Gln ratio.ConclusionA raised Glu:Gln ratio together with positive correlations in creatine, GABA, and 5'-nucleotidase levels could contribute to the pathophysiology of autism, and might be useful diagnostic markers. The mechanism through which these parameters might be related to autism is discussed in detail.

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Section: Discussionmentioning

confidence: 93%