Database : MEDLINE
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[PMID]: 29510241
[Au] Autor:Akamine S; Ishizaki Y; Sakai Y; Torisu H; Fukai R; Miyake N; Ohkubo K; Koga H; Sanefuji M; Sakata A; Kimura M; Yamaguchi S; Sakamoto O; Hara T; Saitsu H; Matsumoto N; Ohga S
[Ad] Address:Departments of Pediatric, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
[Ti] Title:A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia.
[So] Source:Eur J Med Genet;, 2018 Mar 03.
[Is] ISSN:1878-0849
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Mutations in the X-linked gene CDKL5 cause early-onset epileptic encephalopathy and severe developmental delay. Because this disorder predominantly affects females, the full clinical spectrum of male patients remains elusive. We herein report a 16-year-old boy, who suffered from intractable seizures 20 days after birth. Serial electroencephalograms detected recurrent focal epileptiform discharges from age 4 months, which evolved to hypsarrhythmia later in infancy. Mass-spectrometric analyses revealed increase in urinary excretion of methylmalonic acid without perturbed concentrations of propionic acid, homocystein and methionine. Whole-exome sequencing identified a de novo, truncating mutation in CDKL5 (NM_003159.2:c.419dupA, p.Asn140Lysfs*8). Targeted sequencing excluded concomitant mutations in methylmalonic academia-associated genes. No methylmalonic acidemia has been reported in children with CDKL5 disorder. Extensive analyses on organic acid metabolism for males with CDKL5 mutations will gain more insight into their biochemical profiles in infancy.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180306
[Lr] Last revision date:180306
[St] Status:Publisher

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[PMID]: 29378828
[Au] Autor:Collard R; Majtan T; Park I; Kraus JP
[Ad] Address:Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA.
[Ti] Title:Import of TAT-Conjugated Propionyl Coenzyme A Carboxylase Using Models of Propionic Acidemia.
[So] Source:Mol Cell Biol;38(6), 2018 Mar 15.
[Is] ISSN:1098-5549
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Propionic acidemia is caused by a deficiency of the enzyme propionyl coenzyme A carboxylase (PCC) located in the mitochondrial matrix. Cell-penetrating peptides, including transactivator of transcription (TAT), offer a potential to deliver a cargo into the mitochondrion. Here, we investigated the delivery of an α ß PCC enzyme into mitochondria using the HIV TAT peptide at several levels: into isolated mitochondria, in patient fibroblast cells, and in a mouse model. Results from Western blots and enzyme activity assays confirmed the import of TAT-PCC into mitochondria, as well as into patient fibroblasts, where the colocalization of imported TAT-PCC and mitochondria was also confirmed by confocal fluorescence microscopy. Furthermore, a single-dose intraperitoneal injection into PCC-deficient mice decreased the propionylcarnitine/acetylcarnitine (C3/C2) ratio toward the normal level. These results show that a cell-penetrating peptide can deliver active multimeric enzyme into mitochondria , , and and push the size limit of intracellular delivery achieved so far. Our results are promising for other mitochondrion-specific deficiencies.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180228
[Lr] Last revision date:180228
[St] Status:In-Data-Review

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[PMID]: 29339464
[Au] Autor:Morland C; Frøland AS; Pettersen MN; Storm-Mathisen J; Gundersen V; Rise F; Hassel B
[Ad] Address:Norwegian Defense Research Establishment, Kjeller, Norway.
[Ti] Title:Propionate enters GABAergic neurons, inhibits GABA transaminase, causes GABA accumulation and lethargy in a model of propionic acidemia.
[So] Source:Biochem J;475(4):749-758, 2018 Feb 16.
[Is] ISSN:1470-8728
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Propionic acidemia is the accumulation of propionate in blood due to dysfunction of propionyl-CoA carboxylase. The condition causes lethargy and striatal degeneration with motor impairment in humans. How propionate exerts its toxic effect is unclear. Here, we show that intravenous administration of propionate causes dose-dependent propionate accumulation in the brain and transient lethargy in mice. Propionate, an inhibitor of histone deacetylase, entered GABAergic neurons, as could be seen from increased neuronal histone H4 acetylation in the striatum and neocortex. Propionate caused an increase in GABA (γ-amino butyric acid) levels in the brain, suggesting inhibition of GABA breakdown. propionate inhibited GABA transaminase with a K of ∼1 mmol/l. In isolated nerve endings, propionate caused increased release of GABA to the extracellular fluid. , propionate reduced cerebral glucose metabolism in both striatum and neocortex. We conclude that propionate-induced inhibition of GABA transaminase causes accumulation of GABA in the brain, leading to increased extracellular GABA concentration, which inhibits neuronal activity and causes lethargy. Propionate-mediated inhibition of neuronal GABA transaminase, an enzyme of the inner mitochondrial membrane, indicates entry of propionate into neuronal mitochondria. However, previous work has shown that neurons are unable to metabolize propionate oxidatively, leading us to conclude that propionyl-CoA synthetase is probably absent from neuronal mitochondria. Propionate-induced inhibition of energy metabolism in GABAergic neurons may render the striatum, in which >90% of the neurons are GABAergic, particularly vulnerable to degeneration in propionic acidemia.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180217
[Lr] Last revision date:180217
[St] Status:In-Data-Review
[do] DOI:10.1042/BCJ20170814

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[PMID]: 29445937
[Au] Autor:Althonaian N; Alsultan A; Morava E; Alfadhel M
[Ad] Address:King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.
[Ti] Title:Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
[So] Source:JIMD Rep;, 2018 Feb 15.
[Is] ISSN:2192-8304
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:Hemophagocytic lymphohistiocytosis (HLH) is a rare but potentially fatal disease that is characterized by proliferation and infiltration of hyperactivated macrophages and T-lymphocytes. Clinically, it is characterized by prolonged fever, hepatosplenomegaly, hypertriglyceridemia, hypofibrinogenemia, pancytopenia, and hemophagocytosis in the bone marrow, spleen, or lymph nodes. It can be classified as primary if it is due to a genetic defect, or secondary if it is due to a different etiology such as severe infection, immune deficiency syndrome, rheumatological disorder, malignancy, and inborn errors of metabolism such as galactosemia, multiple sulfatase deficiency, lysinuric protein intolerance, Gaucher disease, Niemann-Pick disease, Wolman disease, propionic acidemia, methylmalonic acidemia, biotinidase deficiency, cobalamin C defect, galactosialidosis, Pearson syndrome, and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. For the first time in the literature, we report on a 5-year-old girl diagnosed with a Component of Oligomeric Golgi Complex 6 (COG6) gene defect complicated by HLH. Finally, we review the literature on inborn errors of metabolism associated with HLH and compare the previously reported patients of COG6 gene defect with our patient.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180215
[Lr] Last revision date:180215
[St] Status:Publisher
[do] DOI:10.1007/8904_2018_88

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[PMID]: 29433791
[Au] Autor:Imbard A; Garcia Segarra N; Tardieu M; Broué P; Bouchereau J; Pichard S; de Baulny HO; Slama A; Mussini C; Touati G; Danjoux M; Gaignard P; Vogel H; Labarthe F; Schiff M; Benoist JF
[Ad] Address:Biochemistry Laboratory, APHP, Robert Debré University Hospital, Paris, France; Paris Sud University, Chatenay Malabry, France.
[Ti] Title:Long-term liver disease in methylmalonic and propionic acidemias.
[So] Source:Mol Genet Metab;, 2018 Feb 07.
[Is] ISSN:1096-7206
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND AND OBJECTIVES: Patients affected with methylmalonic acidemia (MMA) and propionic acidemia (PA) exhibit diverse long-term complications and poor outcome. Liver disease is not a reported complication. The aim of this study was to characterize and extensively evaluate long-term liver involvement in MMA and PA patients. PATIENTS AND METHODS: We first describe four patients who had severe liver involvement during the course of their disease. Histology showed fibrosis and/or cirrhosis in 3 patients. Such liver involvement led us to retrospectively collect liver (clinical, laboratory and ultrasound) data of MMA (N = 12) or PA patients (N = 16) from 2003 to 2016. RESULTS: Alpha-fetoprotein (αFP) levels were increased in 8/16 and 3/12 PA and MMA patients, respectively, and tended to increase with age. Moderate and recurrent increase of GGT was observed in 4/16 PA patients and 4/12 MMA patients. Abnormal liver ultrasound with either hepatomegaly and/or hyperechoic liver was observed in 7/9 PA patients and 3/9 MMA patients. CONCLUSIONS: These data demonstrate that approximately half of the patients affected by MMA or PA had signs of liver abnormalities. The increase of αFP with age suggests progressive toxicity, which might be due to the metabolites accumulated in PA and MMA. These metabolites (e.g., methylmalonic acid and propionic acid derivatives) have previously been reported to have mitochondrial toxicity; this toxicity is confirmed by the results of histological and biochemical mitochondrial analyses of the liver in two of our MMA patients. In contrast to the moderate clinical, laboratory or ultrasound expression, severe pathological expression was found for three of the 4 patients who underwent liver biopsy, ranging from fibrosis to cirrhosis. These results emphasize the need for detailed liver function evaluation in organic aciduria patients, including liver biopsy when liver disease is suspected. TAKE HOME MESSAGE: MMA and PA patients exhibit long-term liver abnormalities.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180213
[Lr] Last revision date:180213
[St] Status:Publisher

  6 / 537 MEDLINE  
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[PMID]: 27776753
[Au] Autor:McCrory NM; Edick MJ; Ahmad A; Lipinski S; Scott Schwoerer JA; Zhai S; Justice K; Cameron CA; Berry SA; Pena LD; Inborn Errors of Metabolism Collaborative
[Ad] Address:Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, NC.
[Ti] Title:Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation.
[So] Source:J Pediatr;180:200-205.e8, 2017 Jan.
[Is] ISSN:1097-6833
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:OBJECTIVES: To compare time to evaluation and symptoms at diagnosis of propionic acidemia (PA) by method of ascertainment, and to explore correlations between genotype and biochemical variables. STUDY DESIGN: Clinical symptoms, genotype, and biochemical findings were analyzed retrospectively in 58 individuals with PA enrolled in the Inborn Errors of Metabolism Information System (IBEM-IS) based on the type of initial ascertainment: abnormal newborn screening (NBS), clinical presentation (symptomatic), or family history. RESULTS: The average age at initial evaluation and treatment was significantly younger in patients ascertained via abnormal NBS compared with those referred for clinical symptoms. Furthermore, the majority of individuals ascertained because of abnormal NBS were asymptomatic at diagnosis, compared with a minority of clinical presentations. A notable difference in the frequency of metabolic acidosis at initial presentation was observed between those with abnormal NBS (12.5%; 2 of 16) and those with an abnormal clinical presentation (79%; 19 of 24). The frequency of hyperammonemia was similar in the 2 groups. CONCLUSION: Our data support the continued value of NBS to identify individuals with PA, who are diagnosed and treated earlier than for other modes of ascertainment. There were no statistically significant correlations between genotype and NBS for C3 acylcarnitines. Although expanded use of NBS has allowed for early diagnosis and treatment, long-term outcomes of individuals with PA, especially with respect to mode of ascertainment, remain unclear and would benefit from a longitudinal study.
[Mh] MeSH terms primary: Neonatal Screening/methods
Propionic Acidemia/diagnosis
[Mh] MeSH terms secundary: Female
Genotype
Humans
Infant
Infant, Newborn
Male
Metabolism, Inborn Errors/diagnosis
Metabolism, Inborn Errors/genetics
Propionic Acidemia/genetics
Retrospective Studies
Time Factors
[Pt] Publication type:COMPARATIVE STUDY; JOURNAL ARTICLE
[Em] Entry month:1706
[Cu] Class update date: 180101
[Lr] Last revision date:180101
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:161026
[St] Status:MEDLINE

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[PMID]: 27779624
[Au] Autor:Frye RE; Rose S; Chacko J; Wynne R; Bennuri SC; Slattery JC; Tippett M; Delhey L; Melnyk S; Kahler SG; MacFabe DF
[Ad] Address:Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
[Ti] Title:Modulation of mitochondrial function by the microbiome metabolite propionic acid in autism and control cell lines.
[So] Source:Transl Psychiatry;6(10):e927, 2016 10 25.
[Is] ISSN:2158-3188
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Propionic acid (PPA) is a ubiquitous short-chain fatty acid, which is a major fermentation product of the enteric microbiome. PPA is a normal intermediate of metabolism and is found in foods, either naturally or as a preservative. PPA and its derivatives have been implicated in both health and disease. Whereas PPA is an energy substrate and has many proposed beneficial effects, it is also associated with human disorders involving mitochondrial dysfunction, including propionic acidemia and autism spectrum disorders (ASDs). We aimed to investigate the dichotomy between the health and disease effects of PPA by measuring mitochondrial function in ASD and age- and gender-matched control lymphoblastoid cell lines (LCLs) following incubation with PPA at several concentrations and durations both with and without an in vitro increase in reactive oxygen species (ROS). Mitochondrial function was optimally increased at particular exposure durations and concentrations of PPA with ASD LCLs, demonstrating a greater enhancement. In contrast, increasing ROS negated the positive PPA effect with the ASD LCLs, showing a greater detriment. These data demonstrate that enteric microbiome metabolites such as PPA can have both beneficial and toxic effects on mitochondrial function, depending on concentration, exposure duration and microenvironment redox state with these effects amplified in LCLs derived from individuals with ASD. As PPA, as well as enteric bacteria, which produce PPA, have been implicated in a wide variety of diseases, including ASD, diabetes, obesity and inflammatory diseases, insight into this metabolic modulator from the host microbiome may have wide applications for both health and disease.
[Mh] MeSH terms primary: Autism Spectrum Disorder/physiopathology
Gastrointestinal Microbiome/physiology
Mitochondria/physiology
Mitochondrial Diseases/physiopathology
Propionates/metabolism
Propionic Acidemia/physiopathology
[Mh] MeSH terms secundary: Case-Control Studies
Cell Line
Child
Humans
Male
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (Propionates); JHU490RVYR (propionic acid)
[Em] Entry month:1712
[Cu] Class update date: 171227
[Lr] Last revision date:171227
[Js] Journal subset:IM
[Da] Date of entry for processing:161026
[St] Status:MEDLINE
[do] DOI:10.1038/tp.2016.189

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[PMID]: 29159707
[Au] Autor:Chapman KA; Ostrovsky J; Rao M; Dingley SD; Polyak E; Yudkoff M; Xiao R; Bennett MJ; Falk MJ
[Ad] Address:Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
[Ti] Title:Propionyl-CoA carboxylase pcca-1 and pccb-1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism.
[So] Source:J Inherit Metab Dis;, 2017 Nov 20.
[Is] ISSN:1573-2665
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Propionic acidemia (PA) is a classical inborn error of metabolism with high morbidity that results from the inability of the propionyl-CoA carboxylase (PCC) enzyme to convert propionyl-CoA to methylmalonyl-CoA. PA is inherited in an autosomal recessive fashion due to functional loss of both alleles of either PCCA or PCCB. These genes are highly conserved across evolutionarily diverse species and share extensive similarity with pcca-1 and pccb-1 in the nematode, Caenorhabditis elegans. Here, we report the global metabolic effects of deletion in a single PCC gene, either pcca-1 or pccb-1, in C. elegans. Animal lifespan was significantly reduced relative to wild-type worms in both mutant strains, although to a greater degree in pcca-1. Mitochondrial oxidative phosphorylation (OXPHOS) capacity and efficiency as determined by direct polarography of isolated mitochondria were also significantly reduced in both mutant strains. While in vivo quantitation of mitochondrial physiology was normal in pccb-1 mutants, pcca-1 deletion mutants had significantly increased mitochondrial matrix oxidant burden as well as significantly decreased mitochondrial membrane potential and mitochondrial content. Whole worm steady-state free amino acid profiling by UPLC revealed reduced levels in both mutant strains of the glutathione precursor cysteine, possibly suggestive of increased oxidative stress. Intermediary metabolic flux analysis by GC/MS with 1,6- C -glucose further showed both PCC deletion strains had decreased accumulation of a distal tricarboxylic acid (TCA) cycle metabolic intermediate (+1 malate), isotopic enrichment in a proximal TCA cycle intermediate (+1 citrate), and increased +1 lactate accumulation. GC/MS analysis further revealed accumulation in the PCC mutants of a small amount of 3-hydroxypropionate, which appeared to be metabolized in C. elegans to oxalate through a unique metabolic pathway. Collectively, these detailed metabolic investigations in translational PA model animals with genetic-based PCC deficiency reveal their significantly dysregulated energy metabolism at multiple levels, including reduced mitochondrial OXPHOS capacity, increased oxidative stress, and inhibition of distal TCA cycle flux, culminating in reduced animal lifespan. These findings demonstrate that the pathophysiology of PA extends well beyond what has classically been understood as a single PCC enzyme deficiency with toxic precursor accumulation, and suggest that therapeutically targeting the globally disrupted energy metabolism may offer novel treatment opportunities for PA. SUMMARY: Two C. elegans model animals of propionic acidemia with single-gene pcca-1 or pccb-1 deletions have reduced lifespan with significantly reduced mitochondrial energy metabolism and increased oxidative stress, reflecting the disease's broader pathophysiology beyond a single enzyme deficiency with toxic precursor accumulation.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 171121
[Lr] Last revision date:171121
[St] Status:Publisher
[do] DOI:10.1007/s10545-017-0111-x

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[PMID]: 29068997
[Au] Autor:Chen M; Zhuang J; Yang J; Wang D; Yang Q
[Ad] Address:Department of Nephrology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.
[Ti] Title:Atypical hemolytic uremic syndrome induced by CblC subtype of methylmalonic academia: A case report and literature review.
[So] Source:Medicine (Baltimore);96(43):e8284, 2017 Oct.
[Is] ISSN:1536-5964
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:RATIONALE: Methylmalonic acidemia (MMA) is a common organic acidemia, mainly due to methylmalonyl-CoA mutase (MCM) or its coenzyme cobalamin (VitB12) metabolic disorders. Cobalamin C (CblC) type is the most frequent inborn error of cobalamin metabolism; it can develop symptoms in childhood and often combine multisystem damage, which leads to methylmalonic acid, propionic acid, methyl citrate, and other metabolites abnormal accumulation, causing nerve, liver, kidney, bone marrow, and other organ damage. PATIENT CONCERNS: A 4-year-old girl presented with paleness, fatigue, severe normochromic anemia, and acute kidney injury. DIAGNOSIS: Based on severe normochromic anemia and acute kidney injury, renal biopsy showed membranous proliferative glomerular lesions and thrombotic microvascular disease, supporting the diagnosis of aHUS. Although the serum vitamin B12 was normal, further investigation found the concentration of urinary methylmalonic acid and serum homocysteine increased obviously, genetic analysis revealed a heterozygous MMACHC mutation (exonl: c. 80A >G, c. 609G >A). The final diagnosis was aHUS induced by inherited methylmalonic acidemia (MMACHC heterozygous mutation exonl: c. 80A >G, c. 609G >A). INTERVENTIONS: The patient was treated with a 1mg vitamin B12 intramuscular injection daily for 4 days after which the dose was then adjusted to a 1mg intramuscular injection twice a week. At the same time, the girl was given levocarnitine, betaine, folic acid, along with supportive treatment. OUTCOMES: After treated by vitamin B12 for 10 days, the patient condition significantly improved, Follow-up results showed complete recovery of hemoglobin and renal function. LESSONS: Although the majority of MMA onset from neurological damage, our case illustrates that partial CblC-type MMA can onset with severe metabolic aHUS. On the basis of chronic thrombotic microangiopathy (TMA)-induced renal damage, it can be complicated by acute hemolytic lesions. MMA should be considered in those patients with unclear microangiopathic hemolytic anemia accompany significant megaloblastic degeneration in bone marrow. We should pay attention to the causes and adopt a reasonable treatment strategy.
[Mh] MeSH terms primary: Amino Acid Metabolism, Inborn Errors
Atypical Hemolytic Uremic Syndrome
Carrier Proteins/genetics
Vitamin B 12
[Mh] MeSH terms secundary: Amino Acid Metabolism, Inborn Errors/blood
Amino Acid Metabolism, Inborn Errors/complications
Amino Acid Metabolism, Inborn Errors/genetics
Atypical Hemolytic Uremic Syndrome/diagnosis
Atypical Hemolytic Uremic Syndrome/drug therapy
Atypical Hemolytic Uremic Syndrome/etiology
Atypical Hemolytic Uremic Syndrome/physiopathology
Child, Preschool
Female
Homocysteine/blood
Humans
Kidney/pathology
Methylmalonic Acid/blood
Mutation
Treatment Outcome
Vitamin B 12/administration & dosage
Vitamin B 12/blood
Vitamin B 12/metabolism
Vitamin B Complex/administration & dosage
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Name of substance:0 (Carrier Proteins); 0 (MMACHC protein, human); 0LVT1QZ0BA (Homocysteine); 12001-76-2 (Vitamin B Complex); 8LL8S712J7 (Methylmalonic Acid); P6YC3EG204 (Vitamin B 12)
[Em] Entry month:1711
[Cu] Class update date: 171123
[Lr] Last revision date:171123
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:171026
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000008284

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[PMID]: 29035969
[Au] Autor:Myles JG; Manoli I; Venditti CP
[Ad] Address:aNutrition Department, Clinical Center bOrganic Acid Research Section, Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
[Ti] Title:Effects of medical food leucine content in the management of methylmalonic and propionic acidemias.
[So] Source:Curr Opin Clin Nutr Metab Care;, 2017 Oct 14.
[Is] ISSN:1473-6519
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:PURPOSE OF REVIEW: The current review highlights the varied effects of medical foods high in leucine (Leu) and devoid of valine (Val) and isoleucine (Ile) in the management of methylmalonic acidemia (MMA) and propionic acidemia and cobalamin C (cblC) deficiency, aiming to advance dietary practices. RECENT FINDINGS: Leu is a key metabolic regulator with a multitude of effects on different organ systems. Recent observational studies have demonstrated that these effects can have unintended consequences in patients with MMA as a result of liberal use of medical foods. The combination of protein restriction and medical food use in MMA and propionic acidemia results in an imbalanced branched-chain amino acid (BCAA) dietary content with a high Leu-to-Val and/or Ile ratio. This leads to decreased plasma levels of Val and Ile and predicts impaired brain uptake of multiple essential amino acids. Decreased transport of methionine (Met) across the blood-brain barrier due to high circulating Leu levels is of particular concern in cblC deficiency in which endogenous Met synthesis is impaired. SUMMARY: Investigations into the optimal composition of medical foods for MMA and propionic acidemia, and potential scenarios in which Leu supplementation may be beneficial are needed. Until then, MMA/propionic acidemia medical foods should be used judiciously in the dietary management of these patients and avoided altogether in cblC deficiency.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171016
[Lr] Last revision date:171016
[St] Status:Publisher
[do] DOI:10.1097/MCO.0000000000000428


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