Cerebral ketone body metabolism
- A. Morris
- BiologyJournal of Inherited Metabolic Disease
- 1 April 2005
The ability of KBs to act as an alternative fuel explains the effectiveness of the ketogenic diet in GLUT1 deficiency, but its effectiveness in epilepsy remains unexplained.
ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.
This is the largest collection of riboflavin-responsive MADD patients ever reported, and the first demonstration of the molecular genetic basis for the disorder.
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome
- P. Gissen, Colin A. Johnson, E. Maher
- MedicineNature Genetics
- 1 April 2004
To elucidate the molecular basis of ARC, the disease was mapped to a 7-cM interval on 15q26.1 and germline mutations in the gene VPS33B in 14 kindreds with ARC were identified, which encodes a homolog of the class C yeast vacuolar protein sorting gene, Vps33, that contains a Sec1-like domain important in the regulation of vesicle-to-target SNARE complex formation and subsequent membrane fusion.
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.
- B. Andresen, S. Olpin, N. Gregersen
- BiologyAmerican Journal of Human Genetics
- 1 February 1999
A clear relationship between the nature of the mutation and the severity of disease is shown, in sharp contrast to what has been observed in medium-chain acyl-CoA dehydrogenase deficiency, in which no correlation between genotype and phenotype can be established.
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
- Robert W. Taylor, A. Pyle, P. Chinnery
- Medicine, BiologyJAMA
- 2 July 2014
Exome sequencing enhances the ability to identify potential nuclear gene mutations in patients with biochemically defined defects affecting multiple mitochondrial respiratory chain complexes.
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency
- A. Morris, V. KoĹľich, K. Chapman
- MedicineJournal of Inherited Metabolic Disease
- 24 October 2016
Recommendations for the diagnosis and management of CBS deficiency are presented, based on a systematic review of the literature, and it is strongly recommend measuring the plasma total homocysteine concentrations in any patient whose clinical features suggest the diagnosis.
ARC syndrome: an expanding range of phenotypes
- K. Eastham, P. McKiernan, A. Morris
- MedicineArchives of Disease in Childhood
- 1 November 2001
Observations indicate that the association of Fanconi syndrome, ichthyosis, dysmorphism, jaundice, and diarrhoea has previously been reported as a separate syndrome is part of the ARC spectrum.
Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes
- P. Jumbo-Lucioni, K. Garber, J. Fridovich-Keil
- MedicineJournal of Inherited Metabolic Disease
- 27 March 2012
The data reinforce the idea that there is currently no one best practice for treating patients with classic galactosemia, and underscore the need for more extensive and statistically powerful comparative studies to reveal potential positive or negative impacts of differing approaches.
SURF1 deficiency: a multi-centre natural history study
- Yehani Wedatilake, Ruth M. Brown, S. Rahman
- Medicine, PsychologyOrphanet Journal of Rare Diseases
- 5 July 2013
SURF1-deficient patients have a homogeneous clinical and biochemical phenotype and early recognition is essential to expedite diagnosis and enable prenatal diagnosis.
Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.
- S. Stockler-Ipsiroglu, C. V. van Karnebeek, A. Schulze
- MedicineMolecular Genetics and Metabolism
- 2014
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