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Yield of additional metabolic studies in neurodevelopmental disorders

The timing and yield of metabolic studies for patients with neurodevelopmental disorders is a matter of continuing debate. We determined the yield of additional or repeated metabolic studies in patients with neurodevelopmental disorders. Patients referred to a tertiary diagnostic center for patients with unexplained neurodevelopmental disorders were included. Initial metabolic studies had been per

Two mass-spectrometric techniques for quantifying serine enantiomers and glycine in cerebrospinal fluid : Potential confounders and age-dependent ranges

BACKGROUND: The recent discovery and specific functions of D-amino acids in humans are bound to lead to the revelation of D-amino acid abnormalities in human disorders. Therefore, high-throughput analysis techniques are warranted to determine D-amino acids in biological fluids in a routine laboratory setting. METHODS: We developed 2 chromatographic techniques, a nonchiral derivatization with chira

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- In certain inborn errors of metabolism, an allogeneic stem cell transplantation is able to prevent disease progression. - This is only possible when the stem cell transplantation (SCT) is performed early in life, before cerebral involvement has occurred. - In addition to bone marrow and peripheral blood, unrelated umbilical cord blood appears to be an effective stem cell source as well. - There

Prevention of vitamin k deficiency bleeding in breastfed infants : lessons from the dutch and danish biliary atresia registries

OBJECTIVE. Newborns routinely receive vitamin K to prevent vitamin K deficiency bleeding. The efficacy of oral vitamin K administration may be compromised in infants with unrecognized cholestasis. We aimed to compare the risk of vitamin K deficiency bleeding under different propylactic regimens in infants with biliary atresia. PATIENTS AND METHODS. From Dutch and Danish national biliary atresia re

The Clinical Outcome of Hurler Syndrome after Stem Cell Transplantation

Hurler syndrome (HS) is a severe inborn error of metabolism causing progressive multi-system morbidity and death in early childhood. At present, stem cell transplantation (SCT) is the only available treatment that can prevent central nervous system disease progression in HS patients. Although SCT has been shown to be effective for several important clinical outcome parameters, the reported clinica

Cerebrospinal fluid d-serine and glycine concentrations are unaltered and unaffected by olanzapine therapy in male schizophrenic patients

N-Methyl d-aspartate (NMDA)-receptor hypofunction has been implicated in the pathophysiology of schizophrenia and d-serine and glycine add-on therapy to antipsychotics has shown beneficial effects in schizophrenic patients. Nevertheless, previous studies have not shown consistently altered d-serine concentrations in cerebrospinal fluid (CSF) of schizophrenic patients. To confirm and extend these r

Serine, glycine, and threonine

Amino acids are not only indispensable for protein synthesis but also play important cellular functions. In this chapter, the central nervous system (CNS) functions of serine, glycine, and threonine are discussed. Both the specific functions of the aforementioned amino acids and the functions of their derivatives are reviewed in relation to brain development and neurotransmission. In particular, f

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Menkes disease is an X-linked recessive disorder characterized by neurological deterioration, failure to thrive, peculiar hair and death in childhood, secondary to mutations in the ATP7A gene. The ATP7A gene encodes for a copper transporting P-type ATPase (ATP7A), which is ubiquitously expressed. A defect of the ATP7A protein leads to both a reduced transport of copper from the intestine into the

Cranial ultrasound in metabolic disorders presenting in the neonatal period : Characteristic features and comparison with MR imaging

BACKGROUND AND PURPOSE: Brain imaging is an integral part of the diagnostic work-up for metabolic disorders, and the bedside availability of cranial ultrasonography (cUS) allows very early brain imaging in symptomatic neonates. Our aim was to investigate the role and range of abnormalities seen on cUS in neonates presenting with metabolic disorders. A secondary aim, when possible, was to address t

Reviewing the role of the genes G72 and DAAO in glutamate neurotransmission in schizophrenia

We review the role of two susceptibility genes; G72 and DAAO in glutamate neurotransmission and the aetiology of schizophrenia. The gene product of G72 is an activator of DAAO (D-amino acid oxidase), which is the only enzyme oxidising D-serine. D-serine is an important co-agonist for the NMDA glutamate receptor and plays a role in neuronal migration and cell death. Studies of D-serine revealed low

Quantification of free and total sialic acid excretion by LC-MS/MS

Background: The main purpose for measuring urinary free sialic acid (FSA) is to diagnose sialic acid (SA) storage diseases. Elevated amounts of conjugated sialic acid (CSA) are observed in several diseases indicating the need to quantify CSA as well. A LC-MS/MS method for quantification of FSA and total sialic acid (TSA) in urine is developed and validated. Methods: FSA is analyzed directly after

Disorders of GABA, glycine, serine, and proline

Only for three of the known defects in the metabolism of the amino acidsGABA, glycine, serine, and proline has a more-or-less efficient treatment been reported: the GABA catabolic defect, succinic semialdehyde dehydrogenase deficiency (vigabatrin, causing substrate depletion by inhibition of GABA transaminase); the glycine catabolic defect, nonketotic hyperglycinemia (diet combined with benzoate a

Development of large-scale load-bearing timber-glass structural elements

The building industry demands ever more effective structural elements with a multitude of requirements at the same time. There is increasing interest for load-bearing glass elements which can be deployed in timber structures, e.g. in the outer façade or as column or beam elements within the building. In an on-going research project, the materials glass, timber and the adhesive combining the former