Severe Neonatal Metabolic Decompensation in Methylmalonic Acidemia Caused by CblD Defect

Methylmalonic acidemia (MMA) is caused by a deficiency of methyl-malonyl-CoA mutase. It is a multisystemic condition with poor clinical outcomes characterized by frequent metabolic decompensation with acidosis, hyperammonemia and encephalopathy. Restriction of intact protein and supplementation with amino acid-based formula play an important role in its management. Recently, liver transplant (LT) became a treatment option for MMA patients. However, there has been no current consensus on the post-operative nutrition management for MMA patients undergoing transplant, particularly during the initial phase of recovery period with catabolic stressors. We performed a retrospective analysis of clinical and nutritional management as well as biochemical profiles before and after LT in five patients with MMA. Through this study, we observed significant improvement of MMA-associated metabolites after LT. MMA patients were able to tolerate increased intact protein intake post-operatively. At least 1–1.5 g/kg/day of total protein during the acute phase after transplant may be tolerated without worsening of the metabolite levels. This information provides a guide in how to nutritionally manage MMA after LT.

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Hyperkalemia after acute metabolic decompensation in two children with vitamin B12-unresponsive methylmalonic acidemia and normal renal function

Clinical Nephrology ◽

10.5414/cnp66063 ◽

2006 ◽

Vol 66 (07) ◽

pp. 63-66 ◽

Cited By ~ 6

Author(s):

I. Pela ◽

S. Gasperini ◽

E. Pasquini ◽

M.A. Donati

Keyword(s):

Renal Function ◽

Vitamin B12 ◽

Normal Renal Function ◽

Methylmalonic Acidemia ◽

Metabolic Decompensation

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Vitamin B12-unresponsive methylmalonic acidemia type mut-

10.32388/bagam6 ◽

2020 ◽

Author(s):

Keyword(s):

Vitamin B12 ◽

Methylmalonic Acidemia

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Calcium as a marker of metabolic decompensation in glycogen storage disease type-1a

Endocrine Abstracts ◽

10.1530/endoabs.41.ep152 ◽

2016 ◽

Author(s):

Suleyman Nahit Sendur ◽

Ugur Unluturk ◽

Selcuk Dagdelen

Keyword(s):

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Metabolic Decompensation

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Severe anemia in patients with Propionic acidemia is associated with branched-chain amino acid imbalance

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-021-01865-7 ◽

2021 ◽

Vol 16 (1) ◽

Author(s):

Sinziana Stanescu ◽

Amaya Belanger-Quintana ◽

Borja Manuel Fernandez-Felix ◽

Francisco Arrieta ◽

Victor Quintero ◽

...

Keyword(s):

Amino Acids ◽

Food Consumption ◽

Protein Intake ◽

Propionic Acidemia ◽

Study Data ◽

Metabolic Decompensation ◽

Severe Anemia ◽

Medical Food ◽

Natural Protein ◽

Branched Chain

Abstract Background Propionic acidemia (PA), an inborn error of metabolism, is caused by a deficiency in propionyl-CoA carboxylase. Patients have to follow a diet restricted in the propiogenic amino acids isoleucine (Ile), valine (Val), methionine (Met) and threonine (Thr); proper adherence can prevent and treat acute decompensation and increase life expectancy. However, chronic complications occur in several organs even though metabolic control may be largely maintained. Bone marrow aplasia and anemia are among the more common. Materials and methods In this retrospective study, data for patients with PA being monitored at the Hospital Ramón y Cajal (Madrid, Spain) (n = 10) in the past 10 years were examined to statistically detect relationships between persistent severe anemia outside of metabolic decompensation episodes and dietary practices such as natural protein intake and medical food consumption (special mixture of precursor-free amino acids) along with plasma levels of branched-chain amino acids (BCAA). High ferritin levels were deemed to indicate that a patient had received repeated transfusions for persistent anemia since data on hemoglobin levels at the moment of transfusion were not always passed on by the attending centers. Results Three patients had severe, persistent anemia that required repeated blood transfusions. Higher medical food consumption and plasma Leu levels were associated with iron overload. Notably, natural protein intake and plasma Val were negatively correlated with ferritin levels. We also observed an inverse relationship between plasma Val/Leu and Ile/Leu ratios and ferritin. Conclusion The present results suggest that severe anemia in patients with PA might be associated with low natural protein intake and BCAA imbalance.

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

Scientific Reports ◽

10.1038/s41598-021-81897-y ◽

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.

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