Reversible brain creatine deficiency in two sisters with normal blood creatine level

Bianchi, Maria Cristina; Tosetti, Michela; Fornai, Francesco; Alessandrı̀, Maria Grazia; Cipriani, Paola; Vito, Giuseppe De; Canapicchi, R.

doi:10.1002/1531-8249(200004)47:4<511::aid-ana15>3.0.co;2-n

Cited by 129 publications

(76 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In patients, creatine deficiency syndromes have several common clinical manifestations, including cognitive dysfunction with mental retardation, poor language skills, and autism spectrum disorders (9)(10)(11)(12)(13)(14)(15). Proton magnetic resonance spectroscopy (MRS) of affected patients shows an absence or dramatic diminution of the creatine peak, with relatively normal levels of n-acetyl aspartate (9,16,17).…”

Section: Introductionmentioning

confidence: 99%

Cyclocreatine treatment improves cognition in mice with creatine transporter deficiency

Kurosawa¹,

deGrauw²,

Lindquist³

et al. 2012

J. Clin. Invest.

View full text Add to dashboard Cite

Section: Introductionmentioning

confidence: 99%

Cyclocreatine treatment improves cognition in mice with creatine transporter deficiency

Kurosawa¹,

deGrauw²,

Lindquist³

et al. 2012

J. Clin. Invest.

View full text Add to dashboard Cite

“…The creatine/creatinine ratio is increased and guanidinoacetate levels are normal Salomons et al 2003). Although patients with defects in creatine synthesis may benefit from treatment with oral creatine monohydrate supplementation (Bianchi et al 2000;Stöckler et al 1996), no response has been observed in males affected with SLC6A8 deficiency (Bizzi et al 2002;Cecil et al 2001;deGrauw et al 2002).…”

mentioning

confidence: 99%

X‐Linked creatine transporter deficiency in two patients with severe mental retardation and autism

Póo-Argüelles¹,

Arias

Vilaseca

et al. 2006

J of Inher Metab Disea

View full text Add to dashboard Cite

We describe the first two unrelated Spanish patients with creatine transporter deficiency initially identified by brain proton magnetic resonance spectroscopy (MRS). The clinical phenotype was characterized by severe mental retardation, epilepsy, autism, severe speech delay and absence of brain creatine by MRS. Urine creatine/creatinine ratio was increased and creatine uptake in fibroblasts was impaired in both patients. On DNA sequence analysis of the SLC6A8/creatine transporter gene, one hemizygous mutation was found in each patient: one mutation was novel and consisted of a deletion of two nucleotides c.878-879delTC in exon 5, resulting in a frameshift (p.Lys293fsX3), and in the other patient a known deletion of three nucleotides 1222-1224delTTC in exon 8 resulting in p.Phe408del. Creatine treatment for one year failed to improve the neurological symptoms and was associated with a striking increase in body weight in both patients (13 and 16 kg, respectively).

show abstract

“…Desde então, os avanços das técnicas neurorradiológicas, como a espectroscopia por ressonância magnética e sua capacidade de detectar causas tratáveis de RM 63 , e a detecção de malformações do córtex cerebral em um percentual crescente das crianças com RM levaram à sugestão recente de que os exames de neuroimagem sejam realizados precocemente na investigação do RM, mesmo em crianças sem outras alterações neurológicas 5,62 . A tomografia computadorizada continua a ser o exame de escolha nos pacientes com contorno craniano anormal, isto é, craniossinostose, ou naqueles suspeitos de calcificações intracranianas causadas pela esclerose tuberosa ou pelas infecções congênitas 62 .…”

Section: Etapaunclassified

Mental retardation

Vasconcelos¹

2004

J Pediatr (Rio J)

View full text Add to dashboard Cite

Objective: This paper describes recent advances in the neurobiology of mental retardation, emphasizing new diagnostic resources provided by cytogenetics, molecular testing, and neuroimaging.Sources of data: MEDLINE (January 2000 through October 2003), using the following key words: mental retardation, developmental disability, child, and adolescent. Search of the Pediatrics and New England Journal of Medicine websites using the key word mental retardation. The Online Mendelian Inheritance in Man (OMIM) database was searched for information on clinical genetics. Summary of the findings:In October 2003, the number of genetic syndromes associated with mental retardation reached 1,149. Considering the genetic or environmental and congenital or acquired causes of mental retardation, current diagnostic investigation is able to detect the etiology in 50 to 70% of cases.Conclusions: Diagnostic evaluation should follow a stepwise approach in order to make rational use of the expensive tools of cytogenetics, molecular biology, and neuroimaging. ResumoObjetivo: Esta revisão aborda as recentes descobertas da neurobiologia do retardo mental, enfatizando os novos recursos da citogené-tica, das técnicas moleculares e da neurorradiologia para esclarecer o diagnóstico. IntroduçãoO retardo mental (RM) é um dos transtornos neuropsiquiátricos mais comuns em crianças e adolescentes. A taxa de prevalência tradicionalmente citada é de 1% da população jovem 1,2 , porém alguns autores mencionam taxas de 2 a 3% 3,4 , e há estimativas de até 10% 5 . Há um consenso geral de que o RM é mais comum no sexo masculino, um achado atribuído às numerosas mutações dos genes encontrados no cromossomo X 6 . A razão entre os sexos masculino e feminino é de 1,3 a 1,9 para 1 3 . As crianças acometidas muitas vezes apresentam-se ao pediatra geral com queixa de atraso na fala/linguagem, alteração do comportamento, ou baixo rendimento escolar.O diagnóstico de RM é definido com base em três critérios 7 : início do quadro clínico antes de 18 anos de idade; função intelectual significativamente abaixo da mé-dia, demonstrada por um quociente de inteligência (QI) igual ou menor que 70; e deficiência nas habilidades adaptativas em pelo menos duas das seguintes áreas: comunicação, autocuidados, habilidades sociais/interpessoais, auto-orientação, rendimento escolar, trabalho, lazer, saúde e segurança. O QI normal é considerado acima de 85, ARTIGO DE REVISÃO S72

show abstract

Reversible brain creatine deficiency in two sisters with normal blood creatine level

Cited by 129 publications

References 10 publications

Cyclocreatine treatment improves cognition in mice with creatine transporter deficiency

Cyclocreatine treatment improves cognition in mice with creatine transporter deficiency

X‐Linked creatine transporter deficiency in two patients with severe mental retardation and autism

Mental retardation

Contact Info

Product

Resources

About