Andrew A. M. Morris
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View article: Emergency Management of Intoxication‐Type Inherited Metabolic Disorders
Emergency Management of Intoxication‐Type Inherited Metabolic Disorders Open
In many intoxication‐type inherited metabolic disorders, the accumulation of the toxic chemical can cause acute life‐threatening emergencies. Sometimes this is the inevitable consequence of a severe metabolic defect, but it is often trigge…
View article: Cystathionine β‐Synthase Deficiency in the E‐<scp>HOD</scp> Registry—Part <scp>II</scp>: Dietary and Pharmacological Treatment
Cystathionine β‐Synthase Deficiency in the E‐<span>HOD</span> Registry—Part <span>II</span>: Dietary and Pharmacological Treatment Open
Cystathionine β‐synthase (CBS) deficiency (classical homocystinuria) has a wide range of severity. Mildly affected patients typically present as adults with thromboembolism and respond to treatment with pyridoxine. Severely affected patien…
View article: The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria
The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria Open
Argininosuccinate lyase (ASL) is integral to the urea cycle detoxifying neurotoxic ammonia and the nitric oxide (NO) biosynthesis cycle. Inherited ASL deficiency causes argininosuccinic aciduria (ASA), a rare disease with hyperammonemia an…
View article: Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders Open
View article: Long-term outcomes in two adult siblings with Fucosidosis – Diagnostic odyssey and clinical manifestations
Long-term outcomes in two adult siblings with Fucosidosis – Diagnostic odyssey and clinical manifestations Open
View article: Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study Open
Objective Argininosuccinate lyase (ASL) is integral to the urea cycle, which enables nitrogen wasting and biosynthesis of arginine, a precursor of nitric oxide. Inherited ASL deficiency causes argininosuccinic aciduria, the second most com…
View article: Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology Open
Introduction Argininosuccinate lyase is integral to the urea cycle, which enables nitrogen waste and biosynthesis of arginine, a precursor of nitric oxide. Inherited argininosuccinate lyase deficiency causes argininosuccinic aciduria, the …
View article: Novel<i>DNM1L</i>variants impair mitochondrial dynamics through divergent mechanisms
Novel<i>DNM1L</i>variants impair mitochondrial dynamics through divergent mechanisms Open
Imbalances in mitochondrial and peroxisomal dynamics are associated with a spectrum of human neurological disorders. Mitochondrial and peroxisomal fission both involve dynamin-related protein 1 (DRP1) oligomerisation and membrane constrict…
View article: Influence of early identification and therapy on long‐term outcomes in early‐onset <scp>MTHFR</scp> deficiency
Influence of early identification and therapy on long‐term outcomes in early‐onset <span>MTHFR</span> deficiency Open
MTHFR deficiency is a severe inborn error of metabolism leading to impairment of the remethylation of homocysteine to methionine. Neonatal and early‐onset patients mostly exhibit a life‐threatening acute neurologic deterioration. Furthermo…
View article: From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria
From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria Open
Argininosuccinic aciduria (ASA) is an inherited urea cycle disorder and has a highly variable phenotypic spectrum ranging from individuals with lethal hyperammonemic encephalopathy, liver dysfunction, and cognitive deterioration, to indivi…
View article: Current management of children and young people with heterozygous familial hypercholesterolaemia - HEART UK statement of care
Current management of children and young people with heterozygous familial hypercholesterolaemia - HEART UK statement of care Open
View article: Leigh syndrome caused by mutations in <i><scp>MTFMT</scp></i> is associated with a better prognosis
Leigh syndrome caused by mutations in <i><span>MTFMT</span></i> is associated with a better prognosis Open
[This corrects the article DOI: 10.1002/acn3.725.].
View article: Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment
Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment Open
View article: Leigh syndrome caused by mutations in <i><scp>MTFMT</scp></i> is associated with a better prognosis
Leigh syndrome caused by mutations in <i><span>MTFMT</span></i> is associated with a better prognosis Open
Objectives Mitochondrial methionyl‐ tRNA formyltransferase ( MTFMT ) is required for the initiation of translation and elongation of mitochondrial protein synthesis . Pathogenic variants in MTFMT have been associated with Leigh syndrome ( …
View article: Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy
Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy Open
Recessively inherited variants in AARS2 (NM_020745.2) encoding mitochondrial alanyl-tRNA synthetase (mt-AlaRS) were first described in patients presenting with fatal infantile cardiomyopathy and multiple oxidative phosphorylation defects. …
View article: MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load
MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load Open
View article: Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder Open
ATP synthase, H+ transporting, mitochondrial F1 complex, δ subunit (ATP5F1D; formerly ATP5D) is a subunit of mitochondrial ATP synthase and plays an important role in coupling proton translocation and ATP production. Here, we de…
View article: Randomised controlled trial of simvastatin treatment for autism in young children with neurofibromatosis type 1 (SANTA)
Randomised controlled trial of simvastatin treatment for autism in young children with neurofibromatosis type 1 (SANTA) Open
EU Clinical Trial Register (EudraCT) 2012-005742-38 (www.clinicaltrialsregister.eu).
View article: The genotypic and phenotypic spectrum of MTO1 deficiency
The genotypic and phenotypic spectrum of MTO1 deficiency Open
View article: Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits
Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits Open
View article: Expanding the phenotype in argininosuccinic aciduria: need for new therapies
Expanding the phenotype in argininosuccinic aciduria: need for new therapies Open
Objectives This UK‐wide study defines the natural history of argininosuccinic aciduria and compares long‐term neurological outcomes in patients presenting clinically or treated prospectively from birth with ammonia‐lowering drugs. Methods …
View article: The clinical, biochemical and genetic features associated with <i>RMND1</i>-related mitochondrial disease
The clinical, biochemical and genetic features associated with <i>RMND1</i>-related mitochondrial disease Open
Background Mutations in the RMND1 (Required for Meiotic Nuclear Division protein 1) gene have recently been linked to infantile onset mitochondrial disease characterised by multiple mitochondrial respiratory chain defects. Methods We summa…
View article: Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies Open
View article: Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies Open
Mitochondrial disorders are clinically and genetically diverse, with mutations in mitochondrial or nuclear genes able to cause defects in mitochondrial gene expression. Recently, mutations in several genes encoding factors involved in mt-t…
View article: A recurrent mitochondrial p.Trp22Arg <i>NDUFB3</i> variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype
A recurrent mitochondrial p.Trp22Arg <i>NDUFB3</i> variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype Open
Background Isolated Complex I deficiency is the most common paediatric mitochondrial disease presentation, associated with poor prognosis and high mortality. Complex I comprises 44 structural subunits with at least 10 ancillary proteins; m…
View article: Recognition, assessment and management of hypoglycaemia in childhood
Recognition, assessment and management of hypoglycaemia in childhood Open
Hypoglycaemia is frequent in children and prompt management is required to prevent brain injury. In this article we will consider hypoglycaemia in children after the neonatal period. The most common causes are diabetes mellitus and idiopat…
View article: Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency Open
Background Severe methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare inborn defect disturbing the remethylation of homocysteine to methionine (1.7–34.8 %) residual enzyme activity had mainly psychiatric symptoms, mental retar…
View article: Copy number variation in the human Y chromosome in the UK population
Copy number variation in the human Y chromosome in the UK population Open