Medium‐chain acyl‐coenzyme A dehydrogenase deficiency: Six cases in the Chinese population

Abstract

Background Medium‐chain acyl‐coenzyme A dehydrogenase deficiency (MCADD) is a rare autosomal recessive disorder that affects the degradation of medium‐chain fatty acids. Few cases of MCADD have been documented to date in mainland China. Methods Medium‐chain acyl‐coenzyme A dehydrogenase deficiency was diagnosed in six patients (three girls and three boys) from six unrelated Chinese families at ages ranging from 10 days to 3 years old. The diagnosis was confirmed by the identification of a primary biomarker of serum octanoyl‐carnitine (C8) and genetic pathogenic mutations. Results Only two patients were admitted because of vomiting, diarrhea, myasthenia, and coma; the other four patients were diagnosed via the newborn screening process. Six mutations were found in acyl‐CoA dehydrogenase medium chain (ACADM). One mutation (c.727C>T) was novel and the others (c.158G>A, c.387+1delG, c.449_452del, c.1045C>T, and c.1085G>A) have been previously reported. Conclusions Six Chinese cases of MCADD were identified. One novel mutation was found. c.449_452del and c.1085G>A were common mutations in this study.

Understand variability of COVID-19 through population and tissue variations in expression of SARS-CoV-2 host genes

“…ACADM interacts with structural protein M. It encodes the medium-chain specific acyl-Coenzyme A dehydrogenase to catalyze the initial step of the mitochondrial fatty acid beta-oxidation pathway [ 14 ]. Defects in this gene cause MCADD disease characterized by hepatic dysfunction, fasting hypoglycemia, encephalopathy, and sudden infant death syndrome (SIDS)-like illness [ 36 ]. ACSL3 interacts with a nonstructural protein, and is an isozyme of the long-chain fatty-acid-coenzyme A ligase family.…”

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

“…Mutations p.T150Rfs * 4, p.R17H, p.G362E, p.R53C, and p.R281S accounted for approximately 60% of all alleles in a large cohort of Japanese MCADD patients, and mutation p.T150Rfs * 4 was the most prevalent (Tajima et al, 2016). In Chinese patients, seven mutations have been previously reported, including p.T150Rfs * 4, p.T121I, p.R243X, p.R53H, p.R349X, p.G362E, and c.387+1delG, with p.T150Rfs * 4 being the most common (Liang et al, 2015;Li et al, 2019). We observed 24 ACADM gene mutations, including 17 novel variants.…”

“…Typical MCADD acylcarnitine patterns include elevated levels of hexanoylcarnitine (C6), octanoylcarnitine (C8), and decanoylcarnitine (C10) and of the ratios C8/C2 and C8/C10, especially C8. Additionally, elevated levels of urinary dicarboxylic acids may occur (Li et al, 2019). Detection of acylcarnitine by MS/MS can help identify symptomatic and asymptomatic MCADD cases.…”

Subacute hypoglycemia during gastroenteritis in a child with medium‐chain acyl‐CoA dehydrogenase deficiency

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Multicystic dysplastic kidney (MCDK) is a congenital alteration caused by abnormal differentiation of the methanephros. [1][2][3] It is the most common cause of cystic mass in childhood and the second most common cause of abdominal mass in neonates after hydronephrosis. 1 It is classified Fig.

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“…Patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, an autosomal recessive inherited metabolic disease of fatty acid oxidation, have a risk of severe hypoglycemia leading to coma or death when ill. 1,2 Since the establishment of a newborn screening system using tandem mass spectrometry, 3,4 a large number of infants have been diagnosed with MCAD deficiency before the first episode of severe hypoglycemia. Appropriate and preventive strategies for hypoketotic hypoglycemia in MCAD deficiency have not yet been established.…”