Richard Kirk

Richard Kirk
Sheffield Children's NHS Foundation Trust · Sheffield Diagnostic Genetics Service

MSc

About

30
Publications
5,332
Reads
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376
Citations
Introduction
Recently obtained funding from The Children's Hospital Charity for a research project: Diagnosing rare inherited metabolic diseases using exome sequencing.
Additional affiliations
December 1999 - present
Sheffield Children's NHS Foundation Trust
Position
  • Lead Clinical Scientist - Inborn Errors of Metabolism
Education
September 1996 - September 1997
Newcastle University
Field of study
  • Medical Genetics
September 1993 - June 1996
University of Cambridge
Field of study
  • Genetic Pathology

Publications

Publications (30)
Article
Full-text available
Glycogen storage disease type XIII (GSDXIII) is a very rare inherited metabolic myopathy characterized by autosomal‐recessive mutations in the ENO3 gene resulting in muscle β‐enolase deficiency, an enzymatic defect of the distal part of glycolysis. Enzyme kinetic studies of two patients presenting with exertion intolerance and recurrent rhabdomyoly...
Article
Full-text available
Very-long chain acyl-CoA dehydrogenase deficiency (VLCADD) is a clinically heterogeneous disorder with three major phenotypes: severe neonatal/infantile, milder childhood and late onset myopathic. VLCADD is genetically heterogeneous with numerous pathogenic mutations and variants of uncertain significance. VLCADD is included in many newborn screeni...
Conference Paper
Background: The highly specialised national service for rare non-lysosomal muscle glycogen storage diseases (GSDs) is the only service world-wide offering multi-disciplinary care for patients, including: physician, physiotherapist, clinical nurse specialist, clinical psychologist, dietician, sports and exercise physiologist, patient advocate and a...
Poster
Full-text available
MCADD, caused by mutation in the ACADM gene is the most common disorder of fatty acid -oxidation. Treatment is very successfully if started before symptoms arise. Many countries offer newborn screening (NBS) for MCADD using tandem mass spectrometry (MS/MS) to detect raised octanoyl carnitine (C8) in dried blood spots (DBS). However NBS has led to...
Article
Full-text available
Metabolic myopathies (MM) are rare inherited primary muscle disorders that are mainly due to abnormalities of muscle energy metabolism resulting in skeletal muscle dysfunction. These diseases include disorders of fatty acid oxidation, glyco(geno)lytic muscle disorders and mitochondrial respiratory chain (MRC) disease. Clinically these disorders pre...
Conference Paper
Introduction: Rhabdomyolysis is an acute and lifethreatening event. Different inherited neuromusculardisorders have been reported in association with rhabd-omyolysis. Here we report a severe clinical presentationof recurrent rhabdomyolysis triggered by exertion,abnormal muscle biopsy and an extensive geneticinvestigation.Case Report: A 17-year-old...
Article
Muscle β-enolase deficiency is a very rare inherited metabolic myopathy caused by an enzymatic defect of distal glycolysis. So far, the condition has been described in only one patient with mutations in ENO3 in a compound heterozygous state who presented with exercise intolerance, post-exercise myalgia and mild hyperCKemia but no pigmenturia. We de...
Conference Paper
Recurrent rhabdomyolysis complicates a number of inherited muscle and metabolic disorders and represents a serious, potentially life-threatening condition which frequently requires critical care. Identification of the underlying genetic cause has traditionally relied upon detailed history and examination findings which subsequently guide the invest...
Poster
Very long chain acyl-CoA dehydrogenase deficiency (VLCADD) classically presents with hypoglycaemia related encephalopathy, rhabdomyolysis, cardiomyopathy and elevated creatine kinase and transaminases VLCADD has been diagnosed more often than anticipated since expanded newborn screening (ENBS) began, broadening the phenotypic spectrum of this disea...
Poster
Full-text available
classically presents with hypoglycaemia related encephalopathy, rhabdomyolysis, cardiomyopathy and elevated creatine kinase and transaminases VLCADD has been diagnosed more often than anticipated since expanded newborn screening (ENBS) began, broadening the phenotypic spectrum of this disease to include mild or asymptomatic patients. A common ACADV...
Conference Paper
Background: Next generation sequencing (NGS) represents a leap forward from traditional Sanger sequencing, in terms of the amount of genetic information that can be generated in a reasonable timescale and for a reasonable cost. Objective: The aim was to develop a large NGS panel for a range of inborn errors of metabolism (IEMs): glycogen storage di...
Article
Full-text available
Previous studies have failed to identify mutations in the Wilson's disease gene ATP7B in a significant number of clinically diagnosed cases. This has led to concerns about genetic heterogeneity for this condition but also suggested the presence of unusual mutational mechanisms. We now present our findings in 181 patients from the United Kingdom wit...
Article
Background: Ketotic hypoglycaemia is a common form of hypoglycaemia in childhood. Biochemically, patients present with fasting hypoglycaemia but with normal hormonal and metabolite profiles (low serum alanine levels in some patients). Glycogen Storage Disease Type 0 (GSD0) is an autosomal recessive disease due to mutations in the GYS2 gene. Patien...
Article
A 17-year-old female patient with pyridoxine non-responsive homocystinuria, treated with 20 g of betaine per day, developed a strong body odour, which was described as fish-like. Urinary trimethylamine (TMA) was measured and found to be markedly increased. DNA mutation analysis revealed homozygosity for a common allelic variant in the gene coding f...
Article
We present a vertical transmission of a nonsense mutation in exon 1 of the Wilms' tumor WT1 gene, from a mother who had Wilms' tumor in infancy and decreased fertility at adulthood, to her son who displayed genitourinary (GU) anomalies, gonadal dysgenesis with gonadoblastoma foci, and intra-abdominal Mullerian derivatives. No Wilms' tumor was detec...
Article
Previous reports of preferential transmission of bipolar affective disorder (BP) from the maternal versus the paternal lines in families suggested that this disorder may be caused by mitochondrial DNA mutations. We have sequenced the mitochondrial genome in 25 BP patients with family histories of psychiatric disorder that suggest matrilineal inheri...

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