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Renal acidemia — Clinical Guidelines

Overview

Renal acidemia, often associated with disorders like methylmalonic acidemia (MMA), results from impaired metabolism of amino acids and organic acids, leading to the accumulation of acids such as methylmalonic acid and homocysteine. 3 2

Diagnosis

Key Diagnostic Criteria: Elevated levels of methylmalonic acid (MMA) and/or homocysteine in blood or urine.

Recommended Tests: Gas chromatography-mass spectrometry for MMA and homocysteine measurement. 3

Second-Tier Screening: Analysis of MMA, methylmalonic acid (MMA), and homocysteine (Hcys) in newborn screening programs can aid in early detection. 2

Genetic Testing: Identification of mutations in genes like MMACHC, particularly c.271dupA, for specific subtypes like cblC deficiency. 4

Management

First-Line Treatments:

- Vitamin B12 Supplementation: Hydroxocobalamin or other forms of vitamin B12 replacement. 4 - Dietary Modifications: Low-protein diet to reduce metabolic load. 4

Adjunctive Treatments:

- L-Carnitine: Dosage adjusted based on gestational stage (e.g., 1-3 g/day). 4 - Folic Acid: High-dose supplementation (e.g., 5 mg/day) to manage hyperhomocysteinemia. 4 - Aspirin: Low-dose aspirin (e.g., 80 mg/day) for potential anti-inflammatory benefits. 4

Special Populations

Pregnancy: Successful management with a combination of dietary control, vitamin B12 supplementation, L-carnitine, folic acid, and low-dose aspirin can lead to uneventful pregnancies and healthy outcomes. 4

Pediatrics: Early detection through newborn screening is crucial for timely intervention and improved outcomes. 2

Key Recommendations

Implement second-tier newborn screening tests including MMA, MMA, and Hcys for early detection of MMA and related disorders. (Evidence: Moderate 2)

Initiate vitamin B12 supplementation (hydroxocobalamin) and dietary modifications (low-protein diet) as first-line treatments for MMA. (Evidence: Expert opinion 4)

Consider adjunctive therapies such as L-carnitine, high-dose folic acid, and low-dose aspirin in managing MMA, especially during pregnancy. (Evidence: Expert opinion 4)

References

1 Kiessling E, Peters F, Ebner LJA, Merolla L, Samardzija M, Baumgartner MR et al.. HIF1 and DROSHA are involved in MMACHC repression in hypoxia. Biochimica et biophysica acta. General subjects 2022. link 2 Pajares S, Arranz JA, Ormazabal A, Del Toro M, García-Cazorla Á, Navarro-Sastre A et al.. Implementation of second-tier tests in newborn screening for the detection of vitamin B. Orphanet journal of rare diseases 2021. link 3 Li Y, Peng T, Wang X, Duan R, Gao H, Guan W et al.. A Primary Study on Down-Regulated miR-9-1 and Its Biological Significances in Methylmalonic Acidemia. Journal of molecular neuroscience : MN 2014. link 4 Brunel-Guitton C, Costa T, Mitchell GA, Lambert M. Treatment of cobalamin C (cblC) deficiency during pregnancy. Journal of inherited metabolic disease 2010. link

Renal acidemia