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OBJECTIVE Tandem mass spectrometry is widely applied to routine newborn screening but there are no long-term studies of outcome. We studied the clinical outcome at six years of age in Australia. METHODS In a cohort study, we analyzed the outcome at 6 years for patients detected by screening or by clinical diagnosis among >2 million infants born from 1994(More)
Two siblings with fatal Leigh disease had increased excretion of S-(2-carboxypropyl)cysteine and several other metabolites that are features of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency, a rare defect in the valine catabolic pathway associated with Leigh-like disease. However, this diagnosis was excluded by HIBCH sequencing and normal enzyme(More)
BACKGROUND Detection of abnormal metabolites in urine is important for the diagnosis of many inborn errors of metabolism (IEM). Rapid, comprehensive screening methods are needed. METHODS We used electrospray ionization tandem mass spectrometry in positive- and negative-ion modes to detect selected metabolites in urine. For positive-ion analysis, samples(More)
BACKGROUND Isolated excretion of 2-methylbutyrylglycine (2-MBG) is the hallmark of short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD), a recently identified defect in the proximal pathway of L-isoleucine oxidation. SBCADD might be underdiagnosed because detection and recognition of urine acylglycines is problematic. Excretion of(More)
Trimethylaminuria is an autosomal recessive disorder involving deficientN-oxidation of the dietary-derived amine trimethylamine (TMA). TMA, a volatile tertiary amine, accumulates and is excreted in urine of patients with deficient TMA oxidase activity. Treatment strategies for this condition are limited. We report a new stable-isotope dilution method for(More)
PURPOSE Ileal pouch-anal anastomosis is the surgical procedure of choice for selected patients with severe ulcerative colitis. Pouchitis is a common complication of this procedure, with most cases responding to treatment with metronidazole, possibly with the addition of 5-aminosalicylic acid drugs and steroids. can frequently colonize the colon after(More)
There are several rare syndromes combining wrinkled, redundant skin and neurological abnormalities. Although phenotypic overlap between conditions has suggested that some might be allelic to one another, the aetiology for many of them remains unknown. A consanguineous New Zealand Maori family has been characterised that segregates an autosomal recessive(More)
We describe biochemical and clinical features of 11 subjects (ages, 1.2-84 years, nine females and two males) with transient 5-oxoprolinuria (0.6-23.6 mol/mol of creatinine, reference range <0.07). A variety of conditions preceded the onset of acidosis, and all had taken acetaminophen (paracetamol), although in therapeutic amounts in most subjects.(More)
Excretion of L-2-hydroxyglutaric acid (L-2HG) was first reported in 1980 (Duran et al 1980) in a Moroccan boy with mental and motor retardation, and in 1992 there was a further report of 8 patients (including the original one) who had L-2HG and exhibited developmental delay, cereballar signs and leukodystrophy (Barth et al 1992). We report three Australian(More)
Persistent excretion of 3-methylglutaconic acid was found in a 6-month-old infant with multiple minor physical malformations and delayed development. During two episodes of intercurrent viral illness, the patient developed severe metabolic acidosis and excreted large amounts of lactate, 3-hydroxybutyrate and acetoacetate. The excretion of 3-methylglutaconic(More)