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Methylmalonic acidemia
Treatment in China

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Condition Guide

About Methylmalonic acidemia

Understand the condition, common triggers and treatment options that may require specialist assessment.

Disease Introduction

Methylmalonic acidemia (MMA) is an autosomal recessive inherited disorder of organic acid metabolism caused by a deficiency in the metabolism of methylmalonyl-CoA mutase or its coenzyme cobalamin, leading to the accumulation of toxic metabolites such as methylmalonic acid in the body. Affected children often experience onset in the neonatal or infancy period, presenting with feeding difficulties, vomiting, lethargy, seizures, metabolic acidosis, and hyperammonemia; severe cases can lead to coma or even death. Some types are accompanied by elevated homocysteine levels, which can affect multiple systems, including the brain, kidneys, and eyes. Early detection is possible through newborn screening. With standardized treatment including a low-protein diet, special medical purpose formula, L-carnitine, and vitamin B12, most children can grow normally. Liver transplantation may be considered for severe cases, and gene therapy is currently in clinical trials.

Cutting-edge high-precision diagnostic and treatment technologies

AAV gene therapy : In May 2026, the U.S. FDA approved the clinical trial application for the AAV gene therapy candidate drug MMA-101 for MMUT-deficient methylmalonic acidemia (MMA), targeting the gap in the long-term dependence of this disease on diet and liver transplantation and the lack of approved gene therapies.
Gene Editing Exploration : The world's first nuclease-free homologous recombination liver-targeted gene editing study, SUNRISE, has completed a Phase 1/2 trial in children, validating the safety and feasibility of in vivo gene editing therapy for MMA. Currently, this strategy is still being optimized for dosing and efficiency.
Early diagnosis through newborn screening : China's expanded newborn disease screening enables children with MMA to be diagnosed and intervened in the asymptomatic period. The proportion of vitamin B12-responsive cases and the long-term prognosis of intellectual and growth development are significantly better than those of cases diagnosed later in clinical practice, significantly improving the prognosis and providing better prognosis for intellectual development.
Liver transplant cohort data : China's largest sample cohort shows that MMA liver transplantation significantly improves height growth score and quality of life score; the survival rate of patients after living donor liver transplantation is 100% and the graft survival rate is 96.3%, with definite and reliable efficacy and long-term survival benefits.
New Drug Target Research : Upstream metabolic regulation strategies such as mitochondrial BCAT enzyme inhibition have shown the potential to reduce the accumulation of toxic products such as propionic acid and methylmalonic acid in animal models, providing direction for the development of novel oral drugs and laying the foundation for new drug research and development, and for oral new drugs.

Care Overview

Methylmalonic acidemia Treatment in China

The medical team will develop a personalized protocol based on the pathology type, stage, genetic test, previous treatment history, and the patient's physical condition.

1. Acute phase emergency treatment : Strictly limit the intake of natural protein, administer intravenous fluids, and infuse L-carnitine and sodium bicarbonate to correct metabolic acidosis. If blood ammonia levels are significantly elevated or the patient is in a coma, promptly perform hemodialysis or hemoperfusion to remove toxic metabolites.
2. Long-term dietary management : A low-natural protein diet combined with a special medical purpose formula powder that does not contain isoleucine, valine, methionine, or threonine, under the guidance of a nutritionist, ensures the child's required calories and balanced nutrition for growth and promotes normal development.
3. Medication maintenance : Long-term intramuscular injection of hydroxycobalamin or oral administration of methylcobalamin for effective vitamin B12, combined with levocarnitine to promote organic acid metabolism; for patients with concurrent homocysteineemia, betaine and folic acid are added to maintain metabolic stability in the long term.
4. Liver and kidney transplantation : Liver transplantation or combined liver and kidney transplantation can be performed for patients with severe illness, frequent metabolic crises, or combined renal insufficiency who are difficult to control with diet and medication. This can reduce acute attacks, improve long-term prognosis, and reduce metabolic crises.
5. Clinical trial enrollment : Eligible critically ill children can apply for cutting-edge clinical research projects such as AAV gene therapy and mRNA therapy at qualified pediatric metabolic centers to strive for radical treatment opportunities.

Network of partner hospitals

Recommended Hospitals

Selected leading medical centers with strong specialties and international patient services.

Beijing Children's Hospital (School of Pediatrics, National Children's Medical Center), Capital Medical University

Beijing · Partner Hospital

Beijing Children's Hospital (School of Pediatrics, National Children's Medical Center), Capital Medical University

Pediatrics

The hospital is the National Children's Medical Center (Beijing) and also houses the National Clinical Research Center for Respiratory Diseases, the National Childhood Cancer Monitoring Center, the Key Laboratory of Major Pediatric Diseases Research of the Ministry of Education, the National Pediatric Drug Clinical Trial Platform, and the National Standardized Training Base for Pediatric Specialists. Since the release of the Fudan University's ranking of Chinese hospitals by specialty reputation in 2010, the hospital has consistently ranked first in "Pediatric Surgery" and second in "Pediatric Internal Medicine" for many years; and since 2015, it has consistently ranked first in the Chinese hospital science and technology evaluation (pediatrics) ranking.1. Historical Origins and Spiritual Inheritance

Year Founded: 1942
Beds: 2170

Children's Hospital Affiliated to Fudan University (National Children's Medical Center)

Shanghai · Partner Hospital

Children's Hospital Affiliated to Fudan University (National Children's Medical Center)

Pediatrics

The hospital is a national key discipline in pediatrics, a member of the National 985 Project and the Double First-Class Initiative, and was among the first in the country to be granted authorization to grant master's and doctoral degrees in pediatrics and to establish a postdoctoral research station in clinical medicine. In 2017, it was approved as the National Children's Medical Center (Shanghai), and in 2020, it was approved as the National Pediatric Medical Quality Control Center. Its pediatrics department consistently ranks among the top in the Chinese Hospital Science and Technology Evaluation Ranking and the Chinese Hospital Best Specialty Reputation Ranking, and for many consecutive years, it has ranked first in pediatric internal medicine and second in pediatric surgery in the Chinese Hospital Specialty Reputation Ranking.

Year Founded: 1952
Beds: 1000

Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine

Shanghai · Partner Hospital

Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine

Pediatrics

The hospital has two campuses, one in Yangpu and one in Fengxian. The Yangpu campus is located at 1665 Kongjiang Road, covering an area of 109 acres; the Fengxian campus is located at 6688 Dongfang Meigu Avenue, Fengxian District, and officially opened on June 28, 2025. It covers an area of 152 acres with a total building area of 256,000 square meters, and is the first comprehensive tertiary hospital in Fengxian District. The hospital has 2,700 beds and 5,100 employees. It has 63 clinical and medical technology departments and treatment platforms, including internal medicine, surgery, obstetrics and gynecology, and pediatrics. It is equipped with advanced equipment such as TOMO and surgical robots, and has built a health service system covering the entire life cycle from 0 to 100 years old.

Year Founded: 1958
Beds: 2700

Shanghai Children's Medical Center (National Children's Medical Center), affiliated with Shanghai Jiao Tong University School of Medicine

Shanghai · Partner Hospital

Shanghai Children's Medical Center (National Children's Medical Center), affiliated with Shanghai Jiao Tong University School of Medicine

Pediatrics

1. Historical Origins and Spiritual Inheritance Shanghai Children's Medical Center is a tertiary-level Class A children's specialist hospital integrating medical treatment, scientific research, and teaching. It was jointly built by the Shanghai Municipal People's Government and Project HOPE in the 1990s and officially opened in 1998. Comrade Jiang Zemin inscribed the hospital's name. In 2017, it was approved as a National Children's Medical Center. Adhering to the principle of "everything for children," t

Year Founded: 1998
Beds: 1500

Leading Specialists

Trusted Expertise Across Leading Specialties

Zhang Hao

Chief Physician, Professor, Doctoral Supervisor, President of Shanghai Children's Medical Center, Director of the Heart Center, Director of Shanghai Clinical Medical Research Center for Rare Childhood Diseases

Pediatrics

-Research areas : Complex congenital heart disease in children, pulmonary hypertension in children, rare cardiovascular genetic diseases; - Areas of expertise: Surgical correction of complex congenital heart disease, Potts shunt for pulmonary hypertension, and full life-cycle management of congenital heart disease; - Areas of expertise: Complete transposition of the great arteries, pulmonary atresia, functional single ventricle, and refractory pulmonary hypertension in children; - Academic Highlights & Co

Affiliated Hospital Shanghai Children's Medical Center (National Children's Medical Center), affiliated with Shanghai Jiao Tong University School of Medicine

Huang Guoying

Chief Physician, Professor, Doctoral Supervisor, former Director of the Children's Hospital, and Academic Leader of the Cardiovascular Center

Pediatrics

-Research areas : congenital heart disease in children, Kawasaki disease, and hereditary cardiovascular diseases in children; - Areas of expertise: Non-invasive screening for congenital heart disease in newborns, fetal echocardiography assessment, and perioperative critical care management of complex congenital heart disease; - Areas of expertise: Complex congenital heart disease, Kawasaki disease, hereditary cardiomyopathy, and refractory arrhythmias in children; - Academic Highlights & Core Values: Head

Affiliated Hospital Beijing Children's Hospital (School of Pediatrics, National Children's Medical Center), Capital Medical University

Gu Longjun

Chief Physician, Professor, Doctoral Supervisor, Leading Expert in Pediatric Hematology and Oncology

Pediatrics

-Research areas : Childhood leukemia, childhood malignant solid tumors; - Areas of expertise: Stratified individualized chemotherapy for childhood acute lymphoblastic leukemia, and immunotherapy for childhood tumors; - Diseases specializing in: Acute and chronic childhood leukemia, lymphoma, neuroblastoma; - Academic Highlights & Core Values: One of the pioneers in the diagnosis and treatment of childhood leukemia in China, establishing a tiered treatment plan for childhood allergic rheumatoid arthritis (

Affiliated Hospital Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine

Zhang Yongjun

Chief Physician, Professor, Doctoral Supervisor, Director of Pediatrics, Head of Neonatology Subspecialty

Pediatrics

-Research areas : Critical newborn care, neonatal brain injury, organ protection for premature infants; - Areas of expertise: Comprehensive treatment of extremely low birth weight premature infants, neuroprotection of neonatal hypoxic-ischemic encephalopathy; - Areas of expertise: Extremely premature infants, neonatal respiratory distress syndrome, neonatal necrotizing enterocolitis; - Academic Highlights & Core Values: Head of a National Specialty Department of Neonatal Health Care, established a critica

Affiliated Hospital Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine

Chen Jing

Chief Physician, Professor, Doctoral Supervisor, Director of Hematologic Oncology Department

Pediatrics

-Research areas : Pediatric hematologic malignancies, primary immunodeficiency diseases, lysosomal storage diseases, and hematopoietic stem cell transplantation; - Areas of expertise: Allogeneic/umbilical cord blood hematopoietic stem cell transplantation, selective T-cell depletion transplantation; - Areas of expertise: Mucopolysaccharidosis, Gaucher disease, primary immunodeficiency diseases, relapsed and refractory leukemia; - Academic Highlights & Core Values: Pioneer of mucopolysaccharidosis transpla

Affiliated Hospital Shanghai Children's Medical Center (National Children's Medical Center), affiliated with Shanghai Jiao Tong University School of Medicine

Yuan Xiaojun

Director of the Department of Pediatric Hematology and Oncology, Chief Physician, Master's Supervisor.

Pediatrics

Research Areas : Clinical diagnosis and treatment of pediatric hematologic disorders and malignant tumors, with a particular focus on multidisciplinary comprehensive treatment of pediatric solid tumors. Cutting-Edge Technologies: Pioneered and implemented the MDT (Multidisciplinary Team) approach for the diagnosis and treatment of pediatric solid tumors in China, and authored the Chinese "Expert Consensus on Multidisciplinary Diagnosis and Treatment of Hepatoblastoma in Children" and other treatment guide

Affiliated Hospital Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine

Patient Stories

See the Next Step Through Patient Journeys

Congenital Right Radial Paraaxial Hemilimb Deformity - Reshaping the Wings of a

CASE 01

PATIENT JOURNEY

Congenital Right Radial Paraaxial Hemilimb Deformity - Reshaping the Wings of a "Fallen Angel" - A Dual Reconstruction of Structure and Function

OrthopedicsPediatrics

Patient records: Name: Dara Age: 5 years old Nationality: Cambodia Diagnosis: Congenital right radial paraaxial hemilimb deformity (congenital limb malformation) Treatment Hospital: Beijing Children's Hospital (Orthopedics), Capital Medical University From "no thumb" to "regaining syndesmosis," we've given wings to angels. Five-year-old Dara is from Phnom Penh, Cambodia. She's a cheerful girl, but she was born without a right thumb. Her right hand resembles a small fork, with only four fingers, making it

View case details →

Methylmalonic acidemia - Deciphering the

CASE 02

PATIENT JOURNEY

Methylmalonic acidemia - Deciphering the "metabolic code" to help "special" babies grow normally.

Internal MedicinePediatrics

Patient records: Name: Mei Ling Age: 3 months Nationality: Malaysia Diagnosis: Methylmalonic acidemia (MMA), combined type Treatment Hospital: Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine Decoding Genetic Defects: A Lifelong Battle for Precision Nutrition Meiling was born in Kuala Lumpur, Malaysia. Shortly after birth, she began experiencing recurrent vomiting, lethargy, and feeding difficulties, and quickly developed metabolic acidosis and severe anemia. Local hospitals

View case details →

Congenital Scoliosis - Unshackled by the

CASE 03

PATIENT JOURNEY

Congenital Scoliosis - Unshackled by the "Butterfly Spine," Rebuilding the Pillar of Life

OrthopedicsPediatrics

Patient records: Name: Nguyen Age: 6 years old Nationality: Vietnamese Diagnosis: Congenital scoliosis (hemievertebral malformation) Treatment Hospital: Shanghai Children's Medical Center (National Children's Medical Center), affiliated with Shanghai Jiao Tong University School of Medicine Precise removal of "bad bone" straightens a curved spine. Six-year-old Nguyen Van from Hanoi, Vietnam, was shorter than other children from a young age, and a bulge on his back grew increasingly noticeable. He was afrai

View case details →

CASE 04

PATIENT JOURNEY

Biliary Atresia - Illuminating a "Golden Childhood": A 60-Day Race Against Jaundice

HepatobiliaryPediatrics

Patient records: Name: Budi Age: 45 days Nationality: Indonesia Diagnosis: Biliary atresia Treatment Hospital: Children's Hospital Affiliated to Fudan University (National Children's Medical Center) During the 60-day golden window, we rebuild the river of life for children with gallbladder deficiency. Budi was born in Surabaya, Indonesia. Like all newborns, he developed neonatal jaundice. However, unlike others, his jaundice persisted, and his stools became increasingly pale, eventually turning a horribly

View case details →

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Methylmalonic acidemiaTreatment in China

Methylmalonic acidemia Treatment in China

Recommended Hospitals

Beijing Children's Hospital (School of Pediatrics, National Children's Medical Center), Capital Medical University

Children's Hospital Affiliated to Fudan University (National Children's Medical Center)

Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine

Shanghai Children's Medical Center (National Children's Medical Center), affiliated with Shanghai Jiao Tong University School of Medicine

Trusted Expertise Across Leading Specialties

See the Next Step Through Patient Journeys

Congenital Right Radial Paraaxial Hemilimb Deformity - Reshaping the Wings of a "Fallen Angel" - A Dual Reconstruction of Structure and Function

Methylmalonic acidemia - Deciphering the "metabolic code" to help "special" babies grow normally.

Congenital Scoliosis - Unshackled by the "Butterfly Spine," Rebuilding the Pillar of Life

Biliary Atresia - Illuminating a "Golden Childhood": A 60-Day Race Against Jaundice

Congenital esophageal atresia (Gross type III) - Building a "new bridge" for the "blocked" lifeline

Pediatric Living Donor Liver Transplant: When "Not Living Past One Year Old" Becomes a Prophecy—A Mongolian Mother's Journey of "Saving Her Son by Donating Part of Her Liver"

Cerebral Palsy in Children: Unlocking the "Compressed Spring"—A Kazakh Family Finds a Precise Answer in China

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Remote Consultations

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Methylmalonic acidemia
Treatment in China

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