OBJECTIVES: To summarize the clinical manifestations and genetic characteristics of creatine deficiency syndrome (CDS) caused by GAMT gene mutations. METHODS: A retrospective analysis was conducted on the clinical and genetic data of two children diagnosed with GAMT deficiency-type CDS at the Children's Medical Center of Xiangya Hospital, Central South University, from December 2020 to December 2024. RESULTS: The two patients presented with symptoms in infancy, and both had compound heterozygous mutations in the GAMT gene. Case 1 exhibited seizures and intellectual disability, while Case 2 had intellectual disability and attention-deficit hyperactivity disorder. Magnetic resonance spectroscopy of cranial MRI in both patients indicated reduced creatine peaks. After creatine treatment, seizures in Case 1 were controlled, but both patients continued to experience intellectual disabilities and behavioral issues. As of December 2024, a total of 21 cases have been reported in China (including this study), and 115 cases have been reported abroad. All patients exhibited developmental delay or intellectual disabilities, with 66.9% (91/136) experiencing seizures, 33.8% (46/136) presenting with motor disorders, and 36.8% (50/136) having behavioral problems. Seventy-five percent (102/136) of patients received creatine treatment, leading to significant improvements in seizures and motor disorders, although cognitive improvement was not substantial. CONCLUSIONS GAMT deficiency-type CDS is rare and presents with nonspecific clinical features. Timely diagnosis facilitates targeted treatment, which can partially improve prognosis.
Child ; Female ; Humans ; Male ; Creatine/deficiency* ; Guanidinoacetate N-Methyltransferase/deficiency* ; Intellectual Disability/genetics* ; Mutation ; Retrospective Studies ; Rhabdomyolysis/genetics* ; Language Development Disorders ; Movement Disorders/congenital*

Patients with organophosphate poisoning usually die from respiratory depression and respiratory failure. The incidence of rhabdomyolysis is relatively low, but the mortality rate is extremely high once it occurs. In this paper, the treatment of a patient with acute phoxim poisoning was analyzed. The patient developed severe rhabdomyolysis syndrome on the 3rd day of treatment, the creatine kinase exceeded the normal value by more than 300 times (up to 103510.65 U/L) , and renal failure occurred. Clinical treatment included active detoxification, blood purification, organ support, and internal environment maintenance. The patient's rhabdomyolysis continued, and the condition worsened. Finally, the family gave up the treatment and the patient died. It is suggested that attention should be paid to the occurrence of rhabdomyolysis syndrome during the treatment of organophosphorus poisoning, and timely blood purification technology may be the key to treatment.
Humans ; Rhabdomyolysis/chemically induced* ; Organothiophosphorus Compounds ; Creatine Kinase ; Incidence ; Acute Kidney Injury

Humans ; Rhabdomyolysis/epidemiology* ; Disease Outbreaks/prevention & control*

INTRODUCTION: Spinning is an indoor stationary cycling programme that can cause severe rhabdomyolysis. We compared the clinical characteristics of spinning-induced exertional rhabdomyolysis (SER) with other exertional rhabdomyolysis (ER) and non-exertional rhabdomyolysis (NER). METHODS: This was a retrospective observational study of adult patients presenting with rhabdomyolysis to an emergency department from August 2018 to August 2019. Patients were classified as SER, ER or NER based on chart review. We compared patient demographics, serum creatine kinase (CK), transaminase and creatinine levels, admission rates, duration of hospitalisation and treatment prescribed. RESULTS: 62 patients were analysed. SER patients were predominantly female (77% vs. 24% vs. 26%, P < 0.01), Chinese (100% vs. 47% vs. 79%, P < 0.01) and younger (mean age 27.7 vs. 34.6 vs. 59.4 years, P < 0.01) than those with ER and NER. The SER group had the highest CK level (20,000 vs. 10,465 vs. 6,007 U/L, P < 0.01) but the lowest mean serum creatinine level (53.5 vs. 80.9 vs. 143.5 μmol/L, P < 0.01) compared to the ER and NER groups. Admission rates were the highest in SER patients (100% vs. 57% vs. 90%, P < 0.01). SER mean inpatient length of stay was longer than ER but shorter than NER patients (4.3 vs. 1.9 vs. 6.0 days, P = 0.02). CONCLUSION SER is a unique form of rhabdomyolysis. Predominantly seen in young, healthy women, it often presents with extremely high CK levels. However, the prognosis is good and the rate of complication is low with fluid treatment.
Adult ; Humans ; Female ; Male ; Creatine Kinase ; Rhabdomyolysis/complications* ; Bicycling ; Hospitalization ; Retrospective Studies

Acute Kidney Injury/etiology* ; Humans ; Platelet Count ; Rhabdomyolysis/etiology* ; Risk Factors

Ischemic colitis primarily affects the elderly with underlying disease, but it rarely occurs in young adults with risk factors, such as coagulopathy or vascular disorder. Moreover, it is extremely rare in the very young without risk factors. This paper presents a patient with ischemic colitis associated with heat stroke and rhabdomyolysis after intense exercise under high-temperature conditions. A 20-year-old man presented with mental deterioration after a vigorous soccer game for more than 30 minutes in sweltering weather. He also presented with hematochezia with abdominal pain. The laboratory tests revealed the following: AST 515 U/L, ALT 269 U/L, creatine kinase 23,181 U/L, BUN 29.1 mg/dL, creatinine 1.55 mg/dL, and red blood cell >50/high-power field in urine analysis. Sigmoidoscopy showed ischemic changes at the rectum and rectosigmoid junction. A diagnosis of ischemic colitis and rhabdomyolysis was made, and the patient recovered after conservative and fluid therapy. This case showed that a diagnosis of ischemic colitis should be considered in patients who present with abdominal pain and bloody diarrhea after intense exercise, and appropriate treatment should be initiated immediately.
Abdominal Pain ; Aged ; Colitis, Ischemic ; Creatine Kinase ; Creatinine ; Diagnosis ; Diarrhea ; Erythrocytes ; Fluid Therapy ; Gastrointestinal Hemorrhage ; Heat Stroke ; Hot Temperature ; Humans ; Rectum ; Rhabdomyolysis ; Risk Factors ; Sigmoidoscopy ; Soccer ; Weather ; Young Adult

BACKGROUND/AIMS: The serum aminotransferase level is usually elevated in rhabdomyolysis, and these enzymes originate from the skeletal muscle. On the other hand, there is limited data showing whether the degree of elevation of these enzymes differs according to the concurrent liver disease.METHODS: Patients with rhabdomyolysis were selected when their serum creatinine kinase level was >1,000 U/L. They were categorized as the group with and without concurrent liver disease. The AST and ALT levels in both groups were compared. In addition, the aminotransferase level was compared between those with rhabdomyolysis and those with alcoholic liver disease.RESULTS: Among the 165 patients with rhabdomyolysis, 19 had concurrent liver disease. The median peak AST was higher in the group with concurrent liver disease (332 U/L [interquartile range (IQR), 127–1,604] vs. 219 U/L [IQR, 115–504]). In addition, the median peak ALT was higher in the group with concurrent liver disease (107 U/L [IQR, 74–418] vs. 101 U/L [IQR, 56–218]). On the other hand, there was no significant difference in both enzymes between the two groups. The median peak AST level was significantly higher in those with rhabdomyolysis than in those with alcoholic liver disease (221 U/L [IQR, 118–553] vs. 103 U/L [IQR, 59–206]), but the median peak ALT was not significantly different (102 U/L [IQR, 58–222] vs. 51 U/L [IQR, 26–117]).CONCLUSIONS: Rhabdomyolysis showed an elevated AST-dominant aminotransferase level, which is not different according to concurrent liver disease. Therefore, it is recommended that rhabdomyolysis be considered first in cases of elevated aminotransferase levels in patients with a suspicious skeletal muscle injury.
Alanine Transaminase ; Aspartate Aminotransferases ; Creatinine ; Hand ; Humans ; Liver Diseases ; Liver Diseases, Alcoholic ; Liver ; Muscle, Skeletal ; Phosphotransferases ; Rhabdomyolysis

BACKGROUND: Duchenne muscular dystrophy (DMD) is the most common childhood muscular dystrophy that anesthesiologists can encounter in the operation room, and patients with DMD are susceptible to complications such as rhabdomyolysis, hyperkalemic cardiac arrest, and hyperthermia during the perioperative period. Acute onset of hyperkalemic cardiac arrest is a crisis because of the difficulty in achieving satisfactory resuscitation owing to the sustained hyperkalemia accompanied by rhabdomyolysis. CASE: We here report a case of a 13-year-old boy who had multiple leg fractures and other trauma after a car accident and who had suffered from acute hyperkalemic cardiac arrest. He was refractory to cardiopulmonary resuscitation and showed sustained hyperkalemia. With extracorporeal membrane oxygenation and in-line hemofiltration, he recovered from repeated cardiac arrest and hyperkalemia. CONCLUSIONS: Combining ECMO and in-line hemofiltration might be a safe and effective technique for refractory hyperkalemic cardiac arrest and rhabdomyolysis in patients with DMD.
Adolescent ; Cardiopulmonary Resuscitation ; Extracorporeal Membrane Oxygenation ; Fever ; Heart Arrest ; Hemofiltration ; Humans ; Hyperkalemia ; Leg ; Male ; Muscular Dystrophies ; Muscular Dystrophy, Duchenne ; Orthopedics ; Perioperative Period ; Resuscitation ; Rhabdomyolysis

Ischemic colitis primarily affects the elderly with underlying disease, but it rarely occurs in young adults with risk factors, such as coagulopathy or vascular disorder. Moreover, it is extremely rare in the very young without risk factors. This paper presents a patient with ischemic colitis associated with heat stroke and rhabdomyolysis after intense exercise under high-temperature conditions. A 20-year-old man presented with mental deterioration after a vigorous soccer game for more than 30 minutes in sweltering weather. He also presented with hematochezia with abdominal pain. The laboratory tests revealed the following: AST 515 U/L, ALT 269 U/L, creatine kinase 23,181 U/L, BUN 29.1 mg/dL, creatinine 1.55 mg/dL, and red blood cell >50/high-power field in urine analysis. Sigmoidoscopy showed ischemic changes at the rectum and rectosigmoid junction. A diagnosis of ischemic colitis and rhabdomyolysis was made, and the patient recovered after conservative and fluid therapy. This case showed that a diagnosis of ischemic colitis should be considered in patients who present with abdominal pain and bloody diarrhea after intense exercise, and appropriate treatment should be initiated immediately.
Abdominal Pain ; Aged ; Colitis, Ischemic ; Creatine Kinase ; Creatinine ; Diagnosis ; Diarrhea ; Erythrocytes ; Fluid Therapy ; Gastrointestinal Hemorrhage ; Heat Stroke ; Hot Temperature ; Humans ; Rectum ; Rhabdomyolysis ; Risk Factors ; Sigmoidoscopy ; Soccer ; Weather ; Young Adult

BACKGROUND/AIMS: The serum aminotransferase level is usually elevated in rhabdomyolysis, and these enzymes originate from the skeletal muscle. On the other hand, there is limited data showing whether the degree of elevation of these enzymes differs according to the concurrent liver disease. METHODS: Patients with rhabdomyolysis were selected when their serum creatinine kinase level was >1,000 U/L. They were categorized as the group with and without concurrent liver disease. The AST and ALT levels in both groups were compared. In addition, the aminotransferase level was compared between those with rhabdomyolysis and those with alcoholic liver disease. RESULTS: Among the 165 patients with rhabdomyolysis, 19 had concurrent liver disease. The median peak AST was higher in the group with concurrent liver disease (332 U/L [interquartile range (IQR), 127–1,604] vs. 219 U/L [IQR, 115–504]). In addition, the median peak ALT was higher in the group with concurrent liver disease (107 U/L [IQR, 74–418] vs. 101 U/L [IQR, 56–218]). On the other hand, there was no significant difference in both enzymes between the two groups. The median peak AST level was significantly higher in those with rhabdomyolysis than in those with alcoholic liver disease (221 U/L [IQR, 118–553] vs. 103 U/L [IQR, 59–206]), but the median peak ALT was not significantly different (102 U/L [IQR, 58–222] vs. 51 U/L [IQR, 26–117]). CONCLUSIONS: Rhabdomyolysis showed an elevated AST-dominant aminotransferase level, which is not different according to concurrent liver disease. Therefore, it is recommended that rhabdomyolysis be considered first in cases of elevated aminotransferase levels in patients with a suspicious skeletal muscle injury.
Alanine Transaminase ; Aspartate Aminotransferases ; Creatinine ; Hand ; Humans ; Liver Diseases ; Liver Diseases, Alcoholic ; Liver ; Muscle, Skeletal ; Phosphotransferases ; Rhabdomyolysis