Fatty Acid Oxidation Disorders in a Chinese Population in Taiwan

Chien, Yin‐Hsiu; Lee, Ni‐Chung; Chao, Mei-Chyn; Chen, Li-Chu; Chen, Li-Hsin; Ch, Chien; Ho, Hui-Chen; Suen, Jeng-Hung; Hwu, Wuh‐Liang

doi:10.1007/8904_2013_236

Cited by 24 publications

(27 citation statements)

References 46 publications

(51 reference statements)

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“…These data differ to those for the Chinese population: the c.985A>G mutation was not detected either in the present study or in another Chinese MCADD patient . Of the six mutations detected in the present study, however, a previously reported mutation in Chinese patients, that is, c.449_452del detected in patients 4, 5, and 6, occurred in 3/12 alleles in this study. This mutation is estimated to be relatively common in affected East Asian individuals, accounting for approximately 45% of mutant alleles in Japanese MCADD patients .…”

Section: Discussioncontrasting

confidence: 99%

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

Zhu

Liu

et al. 2019

Pediatrics International

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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.

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Section: Discussioncontrasting

confidence: 99%

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

Zhu

Liu

et al. 2019

Pediatrics International

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“…No clinical data, only the genotype, are available from the first case (Wang et al 2011). The second case was already symptomatic at the time of diagnosis through NBS (he presented with hyperammonemia and hypoglycemia after birth), and no further data about long-term outcome have been described (Chien et al 2013).…”

Section: Biochemical Findingsmentioning

confidence: 99%

“…To the best of our knowledge, until now, only two cases have been identified by positive expanded newborn screening (NBS) (Wang et al 2011;Chien et al 2013). No clinical data, only the genotype, are available from the first case (Wang et al 2011).…”

Section: Biochemical Findingsmentioning

confidence: 99%

Carnitine-Acylcarnitine Translocase Deficiency: Experience with Four Cases in Spain and Review of the Literature

Vitoria¹,

Martín‐Hernández

Quintana

et al. 2014

JIMD Reports

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Background: Carnitine-acylcarnitine translocase (CACT) deficiency is a rare autosomal recessive disease in the mitochondrial transport of long-chain fatty acids. Despite early diagnosis and treatment, the disease still has a high mortality rate.Methods: Clinical symptoms, long-term follow-up, and biochemical and molecular results of four cases are described and compared with the reviewed literature data of 55 cases.Results: Two cases with neonatal onset, carrying in homozygosity the novel variant sequences p.Gly20Asp (c.59G>A) and p.Arg179Gly (c.536A>G), died during an intercurrent infectious process in the first year of life despite adequate dietetic treatment (frequent feeding, highcarbohydrate/low-fat diet, MCT, carnitine). The other two cases, one with infantile onset and the other diagnosed in the newborn period after a previous affected sibling, show excellent development at 4 and 16 years of age under treatment. The review shows that the most frequent presenting symptoms of CACT deficiency are hypoketotic hypoglycemia, hyperammonemia, hepatomegaly, cardiomyopathy and/or arrhythmia, and respiratory distress. The onset of symptoms is predominantly neonatal in 82% and infantile in 18%. The mortality rate is high (65%), most in the first year of life due to myocardiopathy or sudden death. Outcomes seem to correlate better with the absence of cardiac disease and with a higher long-chain fatty acid oxidation rate in cultured fibroblasts than with residual enzyme activity.Conclusion: Diagnosis before the occurrence of clinical symptoms by tandem MS-MS and very early therapeutic intervention together with good dietary compliance could lead to a better prognosis, especially in milder clinical cases.

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“…6 The first variant (c.295C>T) promotes a substitution of arginine by cysteine in position 99 in exon 3, and this mutation has been previously described as pathogenic. 9 The second variant (c.1547T>C) is novel and leads to a substitution of phenylalanine by serine in position 516 in exon 12. This variant was not previously described, is not present in large population databases (EXAC, GNoMED, EVS), and is not reported in the disease databases (ClinVar and HGMD).…”

Section: Discussionmentioning

confidence: 99%

Pearls & Oy-sters: A curable myopathy manifesting as exercise intolerance and respiratory failure

et al. 2018

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Few forms of severe genetic myopathies can successfully be treated, although multiple acyl-CoA dehydrogenase deficiency (MADD) is highly responsive to riboflavin supplementation. c Muscle MRI and muscle biopsy play important roles in patients with exercise intolerance and dyspnea when metabolic myopathy is suspected. Oysters c EMG and serum creatine kinase (CK) levels may be normal in metabolic myopathies. Muscle biopsy may be the only abnormal ancillary examination. c MADD must be considered in cases of rapidly progressive respiratory insufficiency, as this condition is potentially treatable. Case report A 32-year-old woman presented with a 2-year history of progressive exercise intolerance and lower limb myalgia. She noted progressive difficulty in walking long distances and climbing stairs as well as dyspnea. No relevant familial history or consanguinity was reported. The patient's motor development was unremarkable.

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Fatty Acid Oxidation Disorders in a Chinese Population in Taiwan

Abstract: Background: Fatty acid oxidation (FAO) disorders are a heterogeneous group of inborn errors in the transportation and oxidation of fatty acids. FAO disorders were thought to be very rare in the Chinese population.

Cited by 24 publications

References 46 publications

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

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

Carnitine-Acylcarnitine Translocase Deficiency: Experience with Four Cases in Spain and Review of the Literature

Pearls & Oy-sters: A curable myopathy manifesting as exercise intolerance and respiratory failure

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