scholarly journals Clinical Features and Prognosis in Chinese Patients With Dipeptidyl–Peptidase–Like Protein 6 Antibody–Associated Encephalitis

2022 ◽  
Vol 12 ◽  
Author(s):  
Ailiang Miao ◽  
Yongwei Shi ◽  
Xiaoshan Wang ◽  
Jianqing Ge ◽  
Chuanyong Yu
Keyword(s):  
Neuropsychiatric Symptoms ◽  
Disease Onset ◽  
Brain Magnetic Resonance Imaging ◽  
Dipeptidyl Peptidase ◽  
Chinese Patients ◽  
Normal Brain ◽  
Rare Type ◽  
Epileptiform Discharges ◽  
Psychiatric Disturbances ◽  
Positive Antibody

Objectives:Anti-dipeptidyl–peptidase–like protein 6 (anti-DPPX) encephalitis an extremely rare type of immune-mediated encephalitis. This study aimed to analyze the electroclinical characteristics and prognosis of anti-DPPX encephalitis.Methods:Five patients (all male) with anti-DPPX encephalitis in East China from January 2016 to October 2021 was retrospective analyzed. Electroclinical features and outcomes were reviewed.Results:All five patients were male. The media age at disease onset was 32 years old with a range of 14–56 years. The main symptoms included psychiatric disturbances (2/5), amnesia (4/5), confusion (3/5), and seizures (3/5). Migrating myoclonus were identified in patient 4 with positive DPPX and contactin-associated protein-like 2 antibodies in blood. All of the patients had positive DPPX antibodies in serum. Only one of them had positive antibody in the cerebrospinal fluid. EEG showed diffuse slowing in two patients, but no epileptiform discharges were observed. Eighty percent (4/5) of the patients showed normal brain magnetic resonance imaging. After immunotherapy, improvement of neuropsychiatric symptoms from all of the patients was observed. Over a mean follow-up of 30.8 weeks, all of the patients had marked improvement in the modified Rankin Scale. To date, no tumors were not observed in any patients.Conclusions:Anti-DPPX encephalitis mainly presents as neuropsychiatric symptoms. Cooperation of DPPX antibodies and CASPR2 antibodies might have contributed to the migration of myoclonus in the patient 4. Prompt immunotherapy often results in improvement.

scholarly journals Clinical characteristics and prognosis of anti-alpha-Amino-3-Hydroxy-5-Methyl-4-Isoxazolepropionic acid receptor encephalitis

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Zhe Zhang ◽  
Siyuan Fan ◽  
Haitao Ren ◽  
Lixin Zhou ◽  
Hongzhi Guan
Keyword(s):  
Clinical Characteristics ◽  
Limbic Encephalitis ◽  
Disease Onset ◽  
Clinical Manifestations ◽  
Brain Magnetic Resonance Imaging ◽  
Prognostic Information ◽  
Rare Type ◽  
Lung Cancers ◽  
Acid Receptor ◽  
Magnetic Resonance Imaging Mri

Abstract Background Encephalitis associated with antibodies against alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR) is an extremely rare type of antibody-mediated encephalitis. This research aims to investigate the clinical characteristics and prognosis of anti-AMPAR encephalitis. Methods This retrospective study enrolled nine patients with anti-AMPAR encephalitis. Demographic information, clinical manifestations, laboratory and radiological findings, treatment and response were collected and analyzed. These patients were followed up with an average period of 72 weeks to gather prognostic information. Results Nine patients (7 females and 2 males) were enrolled with a mean age at disease onset of 59 years old. Three clinical pictures, including limbic encephalitis (n = 7; 78%), pure amnesia (n = 1; 11%) and fulminant encephalitis (n = 1; 11%) were identified. New symptoms of dysphagia and deafness were identified in the clinical spectrum of anti-AMPAR encephalitis. All patients had positive blood AMPAR antibodies, and six of them (67%) had paired positive antibodies in cerebrospinal fluid (CSF). Brain magnetic resonance imaging (MRI) was abnormal in 75% of the patients with no specific patterns recognized. Six patients (67%) had tumors, including lung cancers and thymomas. After immunotherapy and oncotherapy, partial improvement of neurological symptoms was observed among all 6 patients with available records during their hospitalization. After a mean follow-up of 72 weeks, 3 patients had marked decrease of modified Rankin Scale (mRS) score, 1 patient had unchanged mRS score, 4 patients died and the other one was lost. Conclusions Anti-AMPAR encephalitis mainly presents as limbic encephalitis, and is paraneoplastic in 67% of cases. Thus, intensive screening for tumors is recommended for all anti-AMPAR patients. Although patients showed a good short-term therapeutic response, the overall prognosis was not satisfactory.

scholarly journals A rare mutation c.1663G>A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients

2020 ◽  
Author(s):  
Lili Liang ◽  
Ruixue Shuai ◽  
Yue Yu ◽  
Wenjuan Qiu ◽  
Linghua Shen ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Vitamin B12 ◽  
Disease Onset ◽  
Methylmalonic Acidemia ◽  
Chinese Patients ◽  
Causative Gene ◽  
Rare Type ◽  
Rare Mutation ◽  
Wide Range ◽  
Before And After

Abstract Background Methylmalonic acidemia is an inherited organic acid metabolic disease. it involves multiple physiological systems and has variable manifestations. The primary causative gene MMUT carries wide range of mutations, and one of them, c.1663G > A (p.A555T), is considered to be of an extremely rare type. So far, little is known about the clinical features of patients carrying this mutation. In the present study, we aimed to define the clinical and biochemical features of the patients with this genotype.Methods Among 328 mut type methylmalonic acidemia patients from multiple hospitals in China, we collected 30 patients sharing the mutation c.1663G > A (p.A555T) in the MMUT gene. Their clinical characteristics and biochemical index were described in detail and compared with methylmalonic acidemia patients without this variant.Results Most of these patients were diagnosed via newborn screening (26/30), treated in a timely manner, and kept healthy (24/30). Disease onset occurred in 7 patients. Mental retardation occurred in 4 patients. Vitamin B12 is responsive in 100% of these patients (29/29). The blood propionylcarnitine, blood propionylcarnitine/acetylcarnitine ratio, urinary methylmalonic acid, urinary methylcitric acid before and after treatment in c.1663G > A (p.A555T) carrying patients were much lower than those in non-c.1663G > A (p.A555T) carrying patients.Conclusion Compared to patients with other mutations in the MMUT gene, patients with the c.1663G > A (p.A555T) mutation showed later onset, milder clinical phenotype, lighter biochemical abnormalities, better vitamin B12 responsiveness, lower morbidity, easier metabolic control, and thereby better prognosis. Newborn screening project plays an important role in early diagnosis, treatment, and prognosis of these patients.

scholarly journals Clinical Characteristics and Prognosis of Anti-Alpha- Amino-3-Hydroxy-5-Methyl-4-Isoxazolepropionic Acid Receptor Encephalitis

2021 ◽  
Author(s):  
Zhe Zhang ◽  
Siyuan Fan ◽  
Haitao Ren ◽  
Lixin Zhou ◽  
Hongzhi Guan
Keyword(s):  
Clinical Characteristics ◽  
Limbic Encephalitis ◽  
Disease Onset ◽  
Clinical Manifestations ◽  
Brain Magnetic Resonance Imaging ◽  
Prognostic Information ◽  
Rare Type ◽  
Lung Cancers ◽  
Acid Receptor ◽  
Magnetic Resonance Imaging Mri

Abstract Background Encephalitis associated with antibodies against alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR) is an extremely rare type of antibody-mediated encephalitis. This research aims to investigate the clinical characteristics and prognosis of anti-AMPAR encephalitis. Methods This retrospective study enrolled nine patients with anti-AMPAR encephalitis. Demographic information, clinical manifestations, laboratory and radiological findings, treatment and response were collected and analyzed. These patients were followed up with an average period of 72 weeks to gather prognostic information. Results Nine patients (7 females and 2 males) were enrolled with the mean age of disease onset as 59 years old. Three clinical syndromes, including limbic encephalitis (n=7; 78%), pure amnesia (n=1; 11%) and fulminant encephalitis (n=1; 11%) were identified. New symptoms of dysphagia and deafness were identified in the clinical spectrum of anti-AMPAR encephalitis. All patients had positive blood AMPAR antibodies, and six of them (67%) had paired positive antibodies in cerebrospinal fluid (CSF). Brain magnetic resonance imaging (MRI) were abnormal in 75% of the patients with no specific patterns recognized. Six patients (67%) had tumors, including lung cancers or thymomas. After immunotherapy and oncotherapy, partial improvement of neurological symptoms was observed among all 6 patients with available records during their hospitalization. During a mean follow-up of 72 weeks, 3 patients had marked improvement of modified Rankin Scale (mRS), one patient had unchanged mRS, 4 patients died and the other one was lost. Conclusions Anti-AMPAR encephalitis mainly presents as limbic encephalitis. Anti-AMPAR encephalitis is paraneoplastic in 67% cases and intensive screening for tumors is recommended for all anti-AMPAR patients. Although patients showed a good short-term therapeutic response, the overall prognosis was not satisfactory.

scholarly journals A rare mutation c.1663G>A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients

2020 ◽  
Author(s):  
Lili Liang ◽  
Ruixue Shuai ◽  
Yue Yu ◽  
Wenjuan Qiu ◽  
Linghua Shen ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Vitamin B12 ◽  
Disease Onset ◽  
Methylmalonic Acidemia ◽  
Chinese Patients ◽  
Compound Heterozygous ◽  
Causative Gene ◽  
Rare Type ◽  
Wide Range ◽  
Before And After

Abstract Background: Methylmalonic acidemia is an inherited organic acid metabolic disease. it involves multiple physiological systems and has variable manifestations. The primary causative gene MMUT carries wide range of mutations, and one of them, c.1663G>A (p.A555T), is considered to be of an extremely rare type. So far, little is known about the clinical features of patients carrying this mutation. In the present study, we aimed to define the clinical and biochemical features of the patients with this genotype.Methods: Among 328 mut type methylmalonic acidemia patients from multiple hospitals in China, we collected 30 compound heterozygous patients sharing the mutation c.1663G>A (p.A555T) in the MMUT gene. Their clinical characteristics and biochemical index were described in detail and compared with methylmalonic acidemia patients without this variant. Results: Most of these patients were diagnosed via newborn screening (26/30), treated in a timely manner, and kept healthy (24/30). Disease onset occurred in 7 patients. Developmental delay or intellectual impairment occurred in 4 patients. Vitamin B12 is responsive in 100% of these patients (29/29). The blood propionylcarnitine, blood propionylcarnitine/acetylcarnitine ratio, urinary methylmalonic acid, urinary methylcitric acid before and after treatment in c.1663G>A (p.A555T) carrying patients were much lower than those in non-c.1663G>A (p.A555T) carrying patients.Conclusion: Compared to patients with other mutations in the MMUT gene, patients with the c.1663G>A (p.A555T) mutation showed later onset, milder clinical phenotype, lighter biochemical abnormalities, better vitamin B12 responsiveness, lower morbidity, easier metabolic control, and thereby better prognosis. Newborn screening project plays an important role in early diagnosis, treatment, and prognosis of these patients.

scholarly journals Epidemiological and Clinical Characteristics of Sporadic Creutzfeldt–Jakob Disease: A Retrospective Study in Eastern China

2021 ◽  
Vol 12 ◽  
Author(s):  
Shuo Feng ◽  
Xinjing Zhao ◽  
Xueying Zhou ◽  
Xiang Ye ◽  
Xiaolin Yu ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Survival Time ◽  
Clinical Characteristics ◽  
Eastern China ◽  
Brain Mri ◽  
Disease Onset ◽  
Brain Magnetic Resonance Imaging ◽  
Chinese Patients ◽  
Mean Survival Time ◽  
Jakob Disease

Objective: We aimed to characterize the epidemiological and clinical characteristics of sporadic Creutzfeldt–Jakob disease (sCJD) in eastern China in this retrospective study.Methods: This study enrolled 67 patients with sCJD hospitalized in a grade-A tertiary hospital in eastern China from January 2010 to January 2020. Demographic data, clinical symptoms, brain magnetic resonance imaging (MRI), electroencephalogram (EEG), cerebrospinal fluid (CSF) 14-3-3 protein test, polymerase chain reaction (PCR), and DNA sequence determination of genes were collected and analyzed.Results: There were 62 patients with probable sCJD and 5 patients with possible sCJD. Male (28 cases) to female (39 cases) ratio was 1:1.39. Mean age at disease onset was 64.42 ± 9.00 years (range: 29–88 years), and mean survival time was 9.39 ± 12.58 months (range: 1–60 months for patients who received the follow-ups). The most common onset symptoms were dementia (49.25%), movement disorder (44.78%), and visual disturbance (22.39%), while the most frequent clinical manifestations were language disorders (74.63%), ataxia (70.15%), and myoclonus (70.15%). The positive rates of brain MRI abnormalities, 14-3-3 protein in CSF, and periodic sharp wave complexes (PSWCs) on EEG were 84.90, 68.00, and 46.03%, respectively. The 14-3-3 protein positive (p = 0.033) and PSWCs on EEG (p = 0.020) acted as the favorable and unfavorable factor for over 1 year of survival time, respectively.Conclusions: There were some differences in epidemiological and clinical characteristics among patients in China and those of other countries. The prognosis and its influencing factors were relatively unexplored in China. The mean survival time of Chinese patients was longer than that of Caucasian patients but shorter than that of Japanese patients. The 14-3-3 protein in CSF and PSWCs on EEG were both closely related to the survival time. It is necessary to promote autopsy or biopsy to better understand sCJD in China.

scholarly journals A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Lili Liang ◽  
Ruixue Shuai ◽  
Yue Yu ◽  
Wenjuan Qiu ◽  
Linghua Shen ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Vitamin B12 ◽  
Disease Onset ◽  
Methylmalonic Acidemia ◽  
Chinese Patients ◽  
Compound Heterozygous ◽  
Causative Gene ◽  
Rare Type ◽  
Wide Range ◽  
Before And After

Abstract Background Methylmalonic acidemia is an inherited organic acid metabolic disease. It involves multiple physiological systems and has variable manifestations. The primary causative gene MMUT carries wide range of mutations, and one of them, c.1663G > A (p.A555T), is considered to be a rare type, which is seen more frequently in Asian than other populations. So far, little is known about the clinical features of patients carrying this mutation. In the present study, we aimed to define the clinical and biochemical features of the patients with this genotype. Methods Among 328 mut type methylmalonic acidemia patients from multiple hospitals in China, we collected 30 compound heterozygous patients sharing the mutation c.1663G > A (p.A555T) in the MMUT gene. Their clinical characteristics and biochemical index were described in detail and compared with methylmalonic acidemia patients without this variant. Results Most of these patients were diagnosed via newborn screening (26/30), treated in a timely manner, and kept healthy (24/30). Disease onset occurred in 7 patients. Developmental delay or intellectual impairment occurred in 4 patients. 100% of these patients (29/29) were responsive to Vitamin B12 administration. The blood propionylcarnitine, blood propionylcarnitine/acetylcarnitine ratio, urinary methylmalonic acid, urinary methylcitric acid before and after treatment in c.1663G > A (p.A555T) carrying patients were much lower than those in non-c.1663G > A (p.A555T) carrying patients. Conclusion Compared to patients with other mutations in the MMUT gene, patients with the c.1663G > A (p.A555T) mutation showed later onset, milder clinical phenotype, lighter biochemical abnormalities, better vitamin B12 responsiveness, lower morbidity, easier metabolic control, and thereby better prognosis. Newborn screening project plays an important role in early diagnosis, treatment, and prognosis of these patients.

scholarly journals A rare mutation c.1663G>A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients

2020 ◽  
Author(s):  
Lili Liang ◽  
Ruixue Shuai ◽  
Yue Yu ◽  
Wenjuan Qiu ◽  
Linghua Shen ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Vitamin B12 ◽  
Disease Onset ◽  
Methylmalonic Acidemia ◽  
Chinese Patients ◽  
Compound Heterozygous ◽  
Causative Gene ◽  
Rare Type ◽  
Wide Range ◽  
Before And After

Abstract Background: Methylmalonic acidemia is an inherited organic acid metabolic disease. it involves multiple physiological systems and has variable manifestations. The primary causative gene MMUT carries wide range of mutations, and one of them, c.1663G>A (p.A555T), is considered to be of an extremely rare type. So far, little is known about the clinical features of patients carrying this mutation. In the present study, we aimed to define the clinical and biochemical features of the patients with this genotype. Methods: Among 328 mut type methylmalonic acidemia patients from multiple hospitals in China, we collected 30 compound heterozygous patients sharing the mutation c.1663G>A (p.A555T) in the MMUT gene. Their clinical characteristics and biochemical index were described in detail and compared with methylmalonic acidemia patients without this variant. Results: Most of these patients were diagnosed via newborn screening (26/30), treated in a timely manner, and kept healthy (24/30). Disease onset occurred in 7 patients. Developmental delay or intellectual impairment occurred in 4 patients. Vitamin B12 is responsive in 100% of these patients (29/29). The blood propionylcarnitine, blood propionylcarnitine/acetylcarnitine ratio, urinary methylmalonic acid, urinary methylcitric acid before and after treatment in c.1663G>A (p.A555T) carrying patients were much lower than those in non-c.1663G>A (p.A555T) carrying patients. Conclusion: Compared to patients with other mutations in the MMUT gene, patients with the c.1663G>A (p.A555T) mutation showed later onset, milder clinical phenotype, lighter biochemical abnormalities, better vitamin B12 responsiveness, lower morbidity, easier metabolic control, and thereby better prognosis. Newborn screening project plays an important role in early diagnosis, treatment, and prognosis of these patients.

scholarly journals Does Diabetes Mellitus Alter the Onset and Clinical Course of Vascular Dementia?

2010 ◽  
Vol 23 (3) ◽  
pp. 145-151 ◽  
Author(s):  
Santosh B. Murthy ◽  
Ali Jawaid ◽  
Salah U. Qureshi ◽  
Yogeshwar Kalkonde ◽  
Andrew M. Wilson ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Vascular Dementia ◽  
Neuropsychiatric Symptoms ◽  
Disease Onset ◽  
Multiple Risk Factors ◽  
History Of ◽  
Dementing Illness ◽  
Multiple Variables ◽  
Rate Of Decline ◽  
The Individual

Background:Vascular dementia (VaD) is the second most common dementing illness. Multiple risk factors are associated with VaD, but the individual contribution of each to disease onset and progression is unclear. We examined the relationship between diabetes mellitus type 2 (DM) and the clinical variables of VaD.Methods:Data from 593 patients evaluated between June, 2003 and June, 2008 for cognitive impairment were prospectively entered into a database. We retrospectively reviewed the charts of 63 patients who fit the NINDSAIREN criteria for VaD. The patients were divided into those with DM (VaDDM, n = 29) and those without DM(VaD,n= 34). The groups were compared with regard to multiple variables.Results:Patients with DM had a significantly earlier onset of VaD (71.9 ± 6.54 vs. 77.2 ± 6.03,p< 0.001), a faster rate of decline per year on the mini mental state examination (MMSE; 3.60 ± 1.82 vs. 2.54 ± 1.60 points,p= 0.02), and a greater prevalence of neuropsychiatric symptoms at the time of diagnosis (62% vs. 21%,p= 0.02).Conclusions:A history of premorbid DM was associated with an earlier onset and faster cognitive deterioration in VaD. Moreover, DM was associated with neuropsychiatric symptoms in patients with VaD. A larger study is needed to verify these associations. It will be important to investigate whether better glycemic control will mitigate the potential effects of DM on VaD.

Epilepsy in Propionic Acidemia: Case Series of 14 Saudi Patients

2018 ◽  
Vol 33 (11) ◽  
pp. 713-717 ◽  
Author(s):  
Afnan AlGhamdi ◽  
Muhammad Talal Alrifai ◽  
Abdullah I. Al Hammad ◽  
Fuad Al Mutairi ◽  
Abdulrahman Alswaid ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Case Series ◽  
Brain Magnetic Resonance Imaging ◽  
Propionic Acidemia ◽  
Resonance Imaging ◽  
Mri Findings ◽  
Epileptiform Discharges ◽  
Magnetic Resonance Imaging Mri ◽  
Autosomal Recessive Manner ◽  
Delayed Myelination

Propionic acidemia is an inborn error of metabolism that is inherited in an autosomal recessive manner. It is characterized by a deficient propionyl-CoA carboxylase due to mutations in either of its beta or alpha subunits. In the literature, there is a clear association between propionic acidemia and epilepsy. In this cohort, we retrospectively reviewed the data of 14 propionic acidemia patients in Saudi Arabia and compared the findings to those of former studies. Six of the 14 (43%) patients developed epileptic seizure, mainly focal seizures. All patients were responsive to conventional antiepileptic drugs as their seizures are controlled. The predominant electroencephalographic (EEG) findings were diffuse slowing in 43% and multifocal epileptiform discharges in 14% of the patients. In 1 patient, burst suppression pattern was detected, a pattern never before reported in patients with propionic acidemia. Brain magnetic resonance imaging (MRI) findings mainly consisted of signal changes of the basal ganglia (36%), generalized brain atrophy (43%), and delayed myelination (43%).The most common genotype in our series is the homozygous missense mutation in the PCCA gene (c.425G>A; p. Gly142Asp). However, there is no clear genotype–seizure correlation. We conclude that seizure is not an uncommon finding in patients with propionic acidemia and not difficult to control. Additional studies are needed to further elaborate on genotype–seizure correlation.

scholarly journals Clinical, Biochemical, and Molecular Analyses of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients

2021 ◽  
Vol 12 ◽  
Author(s):  
Zhuwen Gong ◽  
Lili Liang ◽  
Wenjuan Qiu ◽  
Huiwen Zhang ◽  
Jun Ye ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Dehydrogenase Deficiency ◽  
Disease Onset ◽  
Chinese Patients ◽  
Gas Chromatography Mass Spectrometry ◽  
Inherited Metabolic Disorder ◽  
Medium Chain ◽  
Chain Acyl ◽  
Generation Sequencing ◽  
Biochemical Abnormalities

ObjectiveMedium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare inherited metabolic disorder of fatty acid β-oxidation. The present study aimed to evaluate clinical and biochemical manifestations, and the mutation spectrum of this disorder in a large cohort of Chinese patients.MethodsA total of 24 patients were enrolled, and blood acylcarnitine and urinary organic acid levels were measured by tandem mass spectrometry and gas chromatography–mass spectrometry (GC–MS), respectively. Mutations in the ACADM gene were detected by Sanger or next-generation sequencing. Clinical progression, acylcarnitine spectra, and mutations were analyzed and described in detail.ResultsAmong the 24 patients, six cases were diagnosed because of disease onset with symptoms such as vomiting, diarrhea, convulsion, and hypoglycemia; 18 patients without symptoms were diagnosed by newborn screening (NBS). All patients who accepted treatment after diagnosis developed normal intelligence and physique. The concentrations of octanoylcarnitine, the octanoylcarnitine/decanoylcarnitine ratio, and the octanoylcarnitine/acetylcarnitine ratio in the blood and urinary dicarboxylic acid concentrations were consistently elevated. Blood biomarkers failed to decrease after treatment. DNA sequencing revealed seven known and 17 novel mutations in the ACADM gene of patients. Mutation p.T150Rfs∗4 was most frequent, followed by p.R31C, p.F103Y, p.I223T, p.G362E, and c.387+1delG.ConclusionDespite biochemical abnormalities, medium-chain acyl-CoA dehydrogenase deficiency showed relatively mild clinical phenotypes with low mortality and optimistic prognoses in China. NBS is crucial for early diagnosis, treatment, and prognosis.

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