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Klin Padiatr
DOI: 10.1055/a-2744-0192
Short Communication

Successful methionine treatment for diffuse lung disease in a child with pathogenic MARS-1 gene variants

Erfolgreiche Methionin-Behandlung einer diffusen Lungenerkrankung bei einem Kind mit pathogenen Varianten im MARS-1 Gen

Authors

  • Aylin Pörtecene

    1   Department of Pediatrics, Hannover Medical School, Hannover, Germany (Ringgold ID: RIN9177)

  • Julia Carlens

    2   Department of Pediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany
    3   Biomedical Research in Endstage and Obstructive Lung Disease (BREATH), Member of the German Center for Lung Research (DZL), Hannover, Germany

  • Anibh Martin Das

    4   Department of Pediatric Kidney-, Liver- and Metabolic Diseases, Hannover Medical School, Hannover, Germany

  • Maurice Petrasch

    5   Department of Pediatrics, SLK-Kliniken Heilbronn GmbH, Heilbronn, Germany (Ringgold ID: RIN36649)

  • Nicolaus Schwerk

    2   Department of Pediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany
    3   Biomedical Research in Endstage and Obstructive Lung Disease (BREATH), Member of the German Center for Lung Research (DZL), Hannover, Germany

  • Pia Maier

    2   Department of Pediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany
    3   Biomedical Research in Endstage and Obstructive Lung Disease (BREATH), Member of the German Center for Lung Research (DZL), Hannover, Germany
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Introduction

Variants in the MARS-1 gene lead to heterogeneous multisystem disorders involving the lungs, liver, hematopoietic system, immune system, and central nervous system (La Fay C et al., Eur J Med Genet 2021; 64(11): 104334). MARS-1-associated pulmonary disorders have so far been described as diffuse lung disease, which can present in various entities. One of these is pulmonary alveolar proteinosis (PAP), a rare disease characterized by the accumulation of a surfactant in the alveoli. While treatment options for hereditary PAP currently include whole lung lavage, bone marrow transplantation, or lung transplantation, recent case series have shown that L-Methionine supplementation can lead to disease recovery in patients with MARS-1 variants. This case report describes treatment with L-methionine supplementation in a patient with compound heterozygous pathogenic variants in MARS-1, who did not suffer from PAP but from childhood interstitial lung disease as part of a multisystem involvement and who experienced a remarkable and rapid clinical and radiological improvement.



Publication History

Received: 21 August 2025

Accepted: 11 November 2025

Article published online:
11 December 2025

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