2,387 research outputs found
A new form of cerebral folate deficiency with severe self-injurious behaviour
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Intra- and inter-individual variations of blood Phe under 6R-BH4 loading in Phenylalanine Hydroxylase (PAH) deficiency.
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SEVERE SELF-INJURIOUS BEHAVIORS AS MAIN CLINICAL MANIFESTATION OF A NEW FORM OF CEREBRAL FOLATE DEFICIENCY
No full textIntroduction: Cerebral Folate Deficiency (CFD) is a severe neurometabolic encephalopathy associated with low levels of 5-methyltetrahydrofolate (5MTHF) in cerebrospinal fluid (CSF) and normal systemic folate metabolism. We report on a new clinical variant of CFD. Case report: A 6 years old male with intellectual disability, hypotonia, acquired microcephaly and without epilepsy and autistic features came to our attention because of severe recurrent self-injuring behaviors (SIBs) (hitting his head by hands or feet with a rapid, stereotyped, compulsive limb movements), which were triggered by selective environmental changes or frustrating novelties. MRI was normal. He had a low cerebrospinal fluid (CSF) concentration of 5-methyltetrahydrofolate (5MTHF), increased CSF biopterin and normal values of peripheral blood folate. Mutations in Folate receptor 1 gene and the production of folate receptor blocking/binding autoantibodies were excluded. MTHFR gene sequencing and DHPR enzyme activity were normal. Lesch Nyhann, Rett and Angelman syndromes were excluded. Folate supplementation restored almost completely CSF folate without influencing either biopterin and biogenic amine concentrations or SIBs. Conclusions: Developmental delay, mental disability, acquired microcephaly, severe SIBs and undetectable 5MTHF in CSF with remarkable increase of biopterin are all hallmarks of this new condition associated to CFD. Epilepsy and autism spectrum disorder are notably absent
SUCCESSFUL PREGNANCY IN A NEW PATIENT WITH EARLY ONSET DOPA-RESPONSIVE DYSTONIA DUE TO AUTOSOMAL RECESSIVE GTP CYCLOHYDROLASE (AR GTP-CH) DEFICIENCY WITHOUT HYPERPHENYLALANINEMIA
No full textBackground: The effect of pregnancy as well as treatment in genetically confirmed AR GTP-CH deficiency has never been reported. Case report: We report the first case of pregnancy in a 27-year-old woman with this disorder. Since the age of 2 she presented progressive generalized rigidity, limb and cervical dystonia with diurnal fluctuation. At the age of 7 CSF examination showed: neopterin 4 nmol/L (r.v. 9-20), biopterin 13 nmol/L (r.v 10-30), normal homovanillic acid and 5- hydroxyindoleacetic acid. Neopterin and biopterin (mmol/mol Creatinine) were low in urine (0.1 r.v. 0.3-4.0, and 0.24 r.v. 0.5-3.0, respectively). Blood phenylalanine (Phe) was persistently normal, whereas oral Phe loading test revealed a severely impaired Phe clearance. GCH1 gene examination detected two novel missense mutations involving exon 3 (c.508A>G; R170G) and exon 6 (c.745A>G; R249G), which were transmitted by the proband father and mother, respectively. L-Dopa/Carbidopa treatment (10 mg/kg/day) started promptly, normalised neurological status. She became pregnant when 25. L-Dopa/Carbidopa dosage was reduced to 2 mg/kg/day. She delivered a healthy male infant, who was heterozygous for exon 3 mutation and showed a mild transient trunk dystonia during the first 2 years of life. Conclusion: Normal pregnancy and delivery as well as levodopa-carbidopa therapy are compatible with AR GTP-CH deficiency condition
HPLC method for the determination of guanidino compounds in biological liquids and dried blood spot.
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