A novel SUCLA2 mutation in a Portuguese child associated with "mild" methylmalonic aciduria.

Succinyl-coenzyme A synthase is a mitochondrial matrix enzyme that catalyzes the reversible synthesis of succinate and adenosine triphosphate (ATP) from succinyl-coenzyme A and adenosine diphosphate (ADP) in the tricarboxylic acid cycle. This enzyme is made up of α and β subunits encoded by SUCLG1 and SUCLA2, respectively. We present a child with severe muscular hypotonia, dystonia, failure to thrive, sensorineural deafness, and dysmorphism.

Phenotypic variability in a portuguese family with x-linked creatine transport deficiency.

Cerebral creatine transporter deficiency, attributable to mutations in the SLC6A8 gene, causes X-linked mental retardation, language delay, epilepsy, and autistic features. In contrast with creatine synthesis defects, the vast majority of patients with SLC6A8 deficiency do not respond to treatment. We describe a Portuguese family with a mutation (c.

Identification of novel L2HGDH gene mutations and update of the pathological spectrum.

L-2-hydroxyglutaric aciduria (L-2-HGA, MIM 236792) is a neurometabolic disorder caused by the toxic accumulation of high concentration of L-2-hydroxyglutaric acid in plasma and cerebrospinal fluid. Distinct mutations on the L2HGDH gene have been associated with the clinical and biochemical phenotype. Here we present three novel mutations (Gln197X, Gly211Val and c.

Age related reference values for urine creatine and guanidinoacetic acid concentration in children and adolescents by gas chromatography-mass spectrometry.

A new gas chromatography-mass spectrometry method for routine quantification of urine creatine and guanidinoacetic acid (GAA) has been developed to provide a fast, reliable and inexpensive metabolic screening. Our method uses a two-step derivatization procedure which involves a reaction with hexafluoroacetylacetone followed by a reaction with mono-trimethylsilyltrifluoroacetamide. The standard curves showed linearity over a range of 43-4269 micromol/l for GAA and 38-7325 micromol/l for creatine, which covers the range of GAA and creatine normally found in urine.

Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport.

In this study, measurements of guanidinoacetate (GAA) and creatine (Cr) in urine, plasma, and cerebrospinal fluid (CSF) were performed using stable isotope dilution gas chromatography-mass spectrometry. Both compounds were analyzed in a single analysis. Reference values were established for GAA and Cr.