The Fundus Appearance of Methylmalonic Acidemia Combined with Homocystinuria

2019 ◽  
pp. 177-184
Author(s):  
Ning Fan ◽  
Xuyang Liu ◽  
Jiantao Wang
Keyword(s):  
Methylmalonic Acidemia

scholarly journals Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Ruixue Zhang ◽  
Rong Qiang ◽  
Chengrong Song ◽  
Xiaoping Ma ◽  
Yan Zhang ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Inborn Errors Of Metabolism ◽  
Northwest China ◽  
Methylmalonic Acidemia ◽  
Shaanxi Province ◽  
Inborn Errors ◽  
Organic Acidurias ◽  
Genetic Characteristics ◽  
Disease Spectrum ◽  
Expanded Newborn Screening

AbstractExpanded newborn screening facilitates early identification and intervention of patients with inborn errors of metabolism (IEMs), There is a lack of disease spectrum data for many areas in China. To determine the disease spectrum and genetic characteristics of IEMs in Xi'an city of Shaanxi province in northwest China, 146152 newborns were screening by MSMS from January 2014 to December 2019 and 61 patients were referred to genetic analysis by next generation sequencing (NGS) and validated by Sanger sequencing. Seventy-five newborns and two mothers were diagnosed with IEMs, with an overall incidence of 1:1898 (1:1949 without mothers). There were 35 newborns with amino acidemias (45.45%, 1:4176), 28 newborns with organic acidurias (36.36%, 1:5220), and 12 newborns and two mothers with FAO disorders (18.18%; 1:10439 or 1:12179 without mothers). Phenylketonuria and methylmalonic acidemia were the two most common disorders, accounting for 65.33% (49/75) of all confirmed newborn. Some hotspot mutations were observed for several IEMs, including PAH gene c.728G>A for phenylketonuria; MMACHC gene c.609G>A and c.567dupT, MMUT gene c.323G>A for methylmalonic acidemia and SLC25A13 gene c.852_855del for citrin deficiency. Our study provides effective clinical guidance for the popularization and application of expanded newborn screening, genetic screening, and genetic counseling of IEMs in this region.

scholarly journals Correction to: 1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)

2021 ◽  
Author(s):  
Irini Manoli ◽  
Alexandra R. Pass ◽  
Elizabeth A. Harrington ◽  
Jennifer L. Sloan ◽  
Jack Gagné ◽  
...  
Keyword(s):  
Surrogate Endpoint ◽  
Methylmalonic Acidemia ◽  
Breath Testing

scholarly journals Safety and efficacy of liver transplantation for methylmalonic acidemia: A systematic review and meta-analysis

2021 ◽  
Vol 35 (1) ◽  
pp. 100592
Author(s):  
Yi-Zhou Jiang ◽  
Guang-Peng Zhou ◽  
Shan-Shan Wu ◽  
Yuan-Yuan Kong ◽  
Zhi-Jun Zhu ◽  
...  
Keyword(s):  
Systematic Review ◽  
Liver Transplantation ◽  
Meta Analysis ◽  
Methylmalonic Acidemia ◽  
Safety And Efficacy

scholarly journals Identification of 2,2-Dimethylbutanoic Acid (HST5040), a Clinical Development Candidate for the Treatment of Propionic Acidemia and Methylmalonic Acidemia

2021 ◽  
Vol 64 (8) ◽  
pp. 5037-5048
Author(s):  
Allison J. Armstrong ◽  
Brad R. Henke ◽  
Maria Sol Collado ◽  
Justin M. Taylor ◽  
Taylor D. Pourtaheri ◽  
...  
Keyword(s):  
Propionic Acidemia ◽  
Clinical Development ◽  
Methylmalonic Acidemia

scholarly journals 1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)

2021 ◽  
Author(s):  
Irini Manoli ◽  
Alexandra R. Pass ◽  
Elizabeth A. Harrington ◽  
Jennifer L. Sloan ◽  
Jack Gagné ◽  
...  
Keyword(s):  
Clinical Laboratory ◽  
Oxidative Capacity ◽  
Methylmalonic Acidemia ◽  
Cognitive Test ◽  
Therapeutic Effects ◽  
Transplant Recipients ◽  
Mineral Density ◽  
Link Type ◽  
Breath Testing ◽  
Propionate Oxidation

Abstract Purpose To develop a safe and noninvasive in vivo assay of hepatic propionate oxidative capacity. Methods A modified 1-13C-propionate breath test was administered to 57 methylmalonic acidemia (MMA) subjects, including 19 transplant recipients, and 16 healthy volunteers. Isotopomer enrichment (13CO2/12CO2) was measured in exhaled breath after an enteral bolus of sodium-1-13C-propionate, and normalized for CO2 production. 1-13C-propionate oxidation was then correlated with clinical, laboratory, and imaging parameters collected via a dedicated natural history protocol. Results Lower propionate oxidation was observed in patients with the severe mut0 and cblB subtypes of MMA, but was near normal in those with the cblA and mut− forms of the disorder. Liver transplant recipients demonstrated complete restoration of 1-13C-propionate oxidation to control levels. 1-13C-propionate oxidation correlated with cognitive test result, growth indices, bone mineral density, renal function, and serum biomarkers. Test repeatability was robust in controls and in MMA subjects (mean coefficient of variation 6.9% and 12.8%, respectively), despite widely variable serum methylmalonic acid concentrations in the patients. Conclusion Propionate oxidative capacity, as measured with 1-13C-propionate breath testing, predicts disease severity and clinical outcomes, and could be used to assess the therapeutic effects of liver-targeted genomic therapies for MMA and related disorders of propionate metabolism. TRIAL REGISTRATION This clinical study is registered in www.clinicaltrials.gov with the ID: NCT00078078. Study URL: http://clinicaltrials.gov/ct2/show/NCT00078078

High cognitive outcome in an adolescent with mut? methylmalonic acidemia

2000 ◽  
Vol 96 (2) ◽  
pp. 192-195 ◽  
Author(s):  
Liza Varvogli ◽  
Gabriela M. Repetto ◽  
Susan E. Waisbren ◽  
Harvey L. Levy
Keyword(s):  
Methylmalonic Acidemia ◽  
Cognitive Outcome
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