The treatment of congenital lactic acidoses

scientific article published on January 1996

The treatment of congenital lactic acidoses is …
instance of (P31):
scholarly articleQ13442814
review articleQ7318358

External links are
P6179Dimensions Publication ID1010950701
P356DOI10.1007/BF01799117
P698PubMed publication ID8884580

P2093author name stringJ V Leonard
A A Morris
P2860cites workMutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiencyQ24308632
A controlled clinical trial of dichloroacetate for treatment of lactic acidosis in adults. The Dichloroacetate-Lactic Acidosis Study GroupQ28202643
Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathyQ28360128
31P NMR study of improvement in oxidative phosphorylation by vitamins K3 and C in a patient with a defect in electron transport at complex III in skeletal muscle.Q29039246
Hydroperoxide metabolism in mammalian organsQ29614205
Dilated cardiomyopathy due to type II X-linked 3-methylglutaconic aciduria: successful treatment with pantothenic acidQ33614196
Does impairment of energy metabolism result in excitotoxic neuronal death in neurodegenerative illnesses?Q35254212
Leigh syndrome, a mitochondrial encephalo(myo)pathy. A review of the literatureQ36447731
Gene therapy for mitochondrial DNA defects: is it possible?Q40480191
Biological markers of oxidative stress in mitochondrial myopathies with progressive external ophthalmoplegiaQ41132308
Metabolic recovery after exercise and the assessment of mitochondrial function in vivo in human skeletal muscle by means of 31P NMR.Q41583686
Coenzyme Q in serum and muscle of 5 patients with Kearns-Sayre syndrome and 12 patients with ophthalmoplegia plusQ42197214
Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complexQ42512207
MELAS syndrome with mitochondrial tRNA(Leu)(UUR) mutation: correlation of clinical state, nerve conduction, and muscle 31P magnetic resonance spectroscopy during treatment with nicotinamide and riboflavinQ44244041
Therapeutic effect of sodium dichloroacetate on visual and auditory hallucinations in a patient with MELAS.Q44946882
Leigh syndrome associated with a deficiency of the pyruvate dehydrogenase complex: results of treatment with a ketogenic dietQ45237461
Metabolic disorders of embryogenesisQ46364985
Assessment and therapy monitoring of Leigh disease by MRI and proton spectroscopyQ48566621
A mitochondrial myopathy in an infant with lactic acidosis.Q52241170
Ubidecarenone in the treatment of mitochondrial myopathies: a multi-center double-blind trial.Q54088093
Short-term dichloroacetate treatment improves indices of cerebral metabolism in patients with mitochondrial disordersQ57043166
Coenzyme Q10 with multiple vitamins is generally ineffective in treatment of mitochondrial diseaseQ57043469
Vitamin-responsive complex I deficiency in a myopathic patient with increased activity of the terminal respiratory chain and lactic acidosisQ57189960
Pyruvate dehydrogenase deficiency: Molecular basis for intrafamilial heterogeneityQ57655520
31P NMR examination of two patients with NADH-CoQ reductase deficiencyQ59058195
Beneficial effect of sodium dichloroacetate in muscle cytochrome C oxidase deficiencyQ60746562
El Pyruvate Dehydrogenase Deficiency in a Child with Motor NeuropathyQ63531761
Thiamine Responsive Pyruvate Dehydrogenase DeficiencyQ67479869
Ketonic diet in the management of pyruvate dehydrogenase deficiencyQ67527787
Vitamin-responsive pyruvate dehydrogenase deficiency in a young girl with external ophthalmoplegia, myopathy and lactic acidosisQ67560157
Marked reduction in CSF lactate and pyruvate levels after CoQ therapy in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)Q67967357
31P NMR spectroscopy and ergometer exercise test as evidence for muscle oxidative performance improvement with coenzyme Q in mitochondrial myopathiesQ68150271
Long-term coenzyme Q10 therapy for a mitochondrial encephalomyopathy with cytochrome c oxidase deficiency: a 31P NMR studyQ69335917
Mitochondrial encephalomyopathy (MELAS): pathological study and successful therapy with coenzyme Q10 and idebenoneQ69640505
Mitochondrial myopathy and cardiomyopathy in siblingsQ69647475
Benign mitochondrial myopathy with deficiency of NADH-CoQ reductase and cytochrome c oxidaseQ70162893
Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiencyQ70167731
Lipoamide dehydrogenase deficiency with primary lactic acidosis: favorable response to treatment with oral lipoic acidQ70459531
Molecular analysis of abnormal pyruvate dehydrogenase in a patient with thiamine-responsive congenital lactic acidemiaQ72378327
NADH-CoQ reductase deficient myopathy: successful treatment with riboflavinQ72560397
Treatment of complex I deficiency with riboflavinQ72576684
Transient improvement of congenital lactic acidosis in a male infant with pyruvate decarboxylase deficiency treated with dichloroacetateQ72888817
Investigation of human mitochondrial myopathies by phosphorus magnetic resonance spectroscopyQ93604788
P433issue4
P921main subjectcongenital disorderQ727096
P304page(s)573-580
P577publication date1996-01-01
P1433published inJournal of Inherited Metabolic DiseaseQ6295359
P1476titleThe treatment of congenital lactic acidoses
P478volume19

Reverse relations

cites work (P2860)
Q77740221Biochemical monitoring of the treatment in paediatric patients with mitochondrial disease
Q44042699Continuous pH monitoring using the Paratrend 7 inserted into a peripheral vein in a patient with shock and congenital lactic acidosis
Q35085922Emergency management of inherited metabolic diseases
Q77377073In vivo methods useful for therapy monitoring in lactic acidosis
Q42645438Mendeliome sequencing enables differential diagnosis and treatment of neonatal lactic acidosis
Q73701269Mitochondrial Disease
Q33838022Mitochondrial respiratory chain disorders I: mitochondrial DNA defects
Q33759088Mitochondrial respiratory chain disorders and the liver
Q34431317Potential therapeutic use of the ketogenic diet in autism spectrum disorders
Q48450210Reconciling diabetes management and the ketogenic diet in a child with pyruvate dehydrogenase deficiency