Riboflavin‐responsive ethylmalonic—adipic aciduria

Green, A.; Marshall, Tom; Bennett, Michael J.; Gray, R. G. F.; Pollitt, R. J.

doi:10.1007/bf01801667

Cited by 39 publications

(22 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…There are a severe form, lethal early in life, MADD-S, not involved in SIDS, and a milder form. MADD-M. which is often identified to EMA-AD aciduria [31,32]. However, in EMA-AD aciduria, the SCAD activity seems more depressed than in MADD-M. n-butyrylcarnitine being higher in EMA-AD aciduria, whereas 2-methyl-butyrylcarnitine and isovalerylcarnitine predominate in MADD-M [13].…”

Section: Disorders Of Fatty Acid P-oxidation Involved In Sids or 'Nementioning

confidence: 99%

Sudden Infant Death Syndrome and Inherited Disorders of Fatty Acid β-Oxidation

Harpey¹,

Charpentier²,

Paturneau-Jouas³

1990

Neonatology

View full text Add to dashboard Cite

Evidence that inherited disorders of mitochondrial fatty acid β-oxidation can cause sudden infant death syndrome (SIDS) comes from case reports, systematic autopsy studies, and family studies. Family studies are important when no pediatric autopsy has been done, which is still frequent. After reviewing the fatty acid β-oxidation, and its pathophysiology, we present the results of our metabolic study on 189 siblings of SIDS victims, and on 84 ‘near-miss’ infants. We have found evidence for a disorder of fat oxidation in 28 (15%) infants in the first group, and in 14 (17%) infants in the second group. Diagnosing and treating such disorders early in infancy may prevent some cases of SIDS to occur.

show abstract

Section: Disorders Of Fatty Acid P-oxidation Involved In Sids or 'Nementioning

confidence: 99%

Sudden Infant Death Syndrome and Inherited Disorders of Fatty Acid β-Oxidation

Harpey¹,

Charpentier²,

Paturneau-Jouas³

1990

Neonatology

View full text Add to dashboard Cite

show abstract

“…The organic acid profile in ethylmalonic-adipic aciduria is extremely variable, sometimes strongly resembling that seen in medium-chain acyl-CoA dehydrogenase deficiency, while on other occasions tending to a picture like glutaric aciduria type II with moderate excretion of isovalerylglycine. In remission, patients with ethylmalonic-adipic aciduria show a slight to moderate ethylmalonic aciduria as the only abnormality (Dusheiko et al, 1979;Green et al, 1985;Gregersen et al, 1986) and the diagnosis may easily be missed.…”

Section: Urinary Metabolitesmentioning

confidence: 95%

Disorders of mitochondrial β‐oxidation: Prenatal and early postnatal diagnosis and their relevance to Reye's syndrome and sudden infant death

Pollitt

1989

J of Inher Metab Disea

Self Cite

View full text Add to dashboard Cite

There are still many problems with the diagnosis and classification of inherited disorders of mitochondrial beta-oxidation. At present only the acyl-CoA dehydrogenase step of the beta-oxidation spiral has been explored in any detail and a large number of patients have disorders that cannot be properly characterized. beta-Oxidation defects may present in a wide variety of ways, the most dramatic being acute encephalopathy with hepatic involvement (atypical Reye's syndrome) or 'sudden' death. Investigations may include urinary and plasma organic acids, metabolic stress tests and assays of overall metabolic pathways or of specific enzymes in cultured fibroblasts, lymphocytes, or other material. Early postnatal diagnosis presents particular difficulties but in medium-chain acyl-CoA dehydrogenase deficiency the diagnosis may be apparent from careful examination of urine. There is as yet little general experience in prenatal diagnosis of this group of disorders except for glutaric aciduria type II. Single prenatal diagnoses of medium-chain acyl-CoA dehydrogenase deficiency and of an incompletely characterized defect of medium-chain fatty acid oxidation have been performed.

show abstract

“…Butyryl-CoA dehydrogenase has been reported to be the hepatic dehydrogenase most affected in cases of riboflavin deficiency (42). Isovalerylglycine synthesis occurs via isovaleryl-CoA from leucine catabolism (43). The fact that glutaric, adipic, and suberic aciduria in the anorectic patients before and after refeeding was not significantly different from that in the control subjects suggests that the urinary organic acid pattern of anorexia nervosa malnutrition was different from that of the genetic form of riboflavin-responsive ethylmalonic-adipic aciduria (43).…”

Section: Discussionmentioning

confidence: 99%

“…Isovalerylglycine synthesis occurs via isovaleryl-CoA from leucine catabolism (43). The fact that glutaric, adipic, and suberic aciduria in the anorectic patients before and after refeeding was not significantly different from that in the control subjects suggests that the urinary organic acid pattern of anorexia nervosa malnutrition was different from that of the genetic form of riboflavin-responsive ethylmalonic-adipic aciduria (43). The fact that concentrations of ethylmalonic, adipic, and suberic acids measured in our anorexia nervosa patients were significantly lower than concentrations we observed previously in malnourished Mauritanian children (44) suggests that FAD-dependent acyl-CoA dehydrogenase activities were less affected in anorectic patients than in malnourished children.…”

Section: Discussionmentioning

confidence: 99%

Riboflavin and riboflavin-derived cofactors in adolescent girls with anorexia nervosa

Capo-chichi

Guéant

Lefebvre

et al. 1999

The American Journal of Clinical Nutrition

View full text Add to dashboard Cite

Background: Thyroid hormones, riboflavin, riboflavin cofactors, and organic acids were assessed in girls with anorexia nervosa. Objective: The objective was to examine the effect of malnutrition and low thyroid hormone concentrations on erythrocyte and plasma riboflavin metabolism and their relation with urinary organic acid excretion. Design: Seventeen adolescent girls with anorexia nervosa [body mass index (BMI; in kg/m 2 ): 14.8 ± 2.2] and 17 age-matched, healthy girls (control subjects; BMI: 20.5 ± 2.2) took part in the feeding study. Erythrocyte and plasma riboflavin as well as riboflavin cofactors (flavin mononucleotide and flavin adenine dinucleotide) were assessed by HPLC, whereas urinary organic acids were assessed by gas chromatography-mass spectrometry. Results: Anorectic patients who began a feeding program had higher erythrocyte riboflavin (3.5 ± 2.2 compared with < 0.1 nmol/mol hemoglobin; P < 0.001), lower plasma flavin adenine dinucleotide (57.8 ± 18.5 compared with 78.5 ± 54.3 nmol/L; P < 0.05), and higher urinary ethymalonic acid (7.12 ± 4.39 compared with 1.3 ± 2.8 mol/mmol creatinine; P < 0.001) and isovalerylglycine (7.65 ± 4.78 compared with 3.8 ± 0.9 mol/mmol creatinine; P < 0.05) concentrations than did control subjects. Triiodothyronine concentrations were low and negatively correlated with plasma riboflavin concentrations (r = Ϫ0.69, P < 0.01). Not all patients showed improvements in these biochemical indexes after 30 d of refeeding. Conclusions: The low triiodothyronine concentrations observed in anorexia nervosa could alter the extent of riboflavin conversion into cofactors, thus leading to high erythrocyte riboflavin concentrations, low plasma flavin adenine dinucleotide concentrations, and high rates of ethylmalonic acid and isovalerylglycine excretion.Am J Clin Nutr 1999;69:672-8.

show abstract

Riboflavin‐responsive ethylmalonic—adipic aciduria

Cited by 39 publications

References 19 publications

Sudden Infant Death Syndrome and Inherited Disorders of Fatty Acid β-Oxidation

Sudden Infant Death Syndrome and Inherited Disorders of Fatty Acid β-Oxidation

Disorders of mitochondrial β‐oxidation: Prenatal and early postnatal diagnosis and their relevance to Reye's syndrome and sudden infant death

Riboflavin and riboflavin-derived cofactors in adolescent girls with anorexia nervosa

Contact Info

Product

Resources

About