Ocular characteristics in 10 children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a cross-sectional study with long-term follow-up

Fahnehjelm, Kristina Teär; Holmström, Gerd; Liu, Ying; Haglind, Charlotte Bieneck; Nordenström, Anna; Halldin, Magnus M.; Alm, Jan; Németh, Antal; Döbeln, Ulrika von

doi:10.1111/j.1755-3768.2007.01121.x

Cited by 8 publications

(10 citation statements)

References 22 publications

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“…The long-term outcome is variable, but a constant feature is retinal pigmentations progressing to impaired retinal function (Fahnehjelm et al 2007;Tyni et al 1998b). Peripheral neuropathy and psychomotor delay have been described in some patients (Bennett et al 2000;den Boer et al 2002;Saudubray et al 1999;Spiekerkoetter et al 2009a, b;Tyni et al 1997;Wanders et al 1990b).…”

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confidence: 99%

Growth in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

et al. 2012

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Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is an inborn error of fatty acid metabolism that affects the degradation of long chain fatty acids and causes insufficient energy production and accumulation of toxic intermediates. The treatment consists of a diet low in fat, with supplementation of medium-chain triglycerides that bypass the metabolic block. In addition, frequent feeds and extra carbohydrates are given during febrile illnesses to reduce lipolysis. Hence, this diet differs from the general dietary recommendations for growing children. Furthermore, the Swedish dietary instructions for fat intake in LCHAD deficiency are given in grams, which differ from most guidelines that recommend fat intake as percentage shares of total caloric intake.Aims: To assess growth in patients with LCHAD deficiency, in relation to dietary treatment and to evaluate if overweight/obesity is more common than in the normal population.Results: The growth velocity showed acceleration after diagnosis and the start of treatment, followed by a period of stable or decelerated growth. The majority of the patients developed overweight to a greater extent than children without LCHAD deficiency. Several patients also went through a phase of obesity. Data on final height (FH) showed that three out of five patients had grown according to their genetic potential.Conclusions: Regular and frequent follow-up and careful monitoring of weight are essential to avoid the development of overweight and obesity. The Swedish dietary instructions defining fat intake in total grams per day may be an alternative approach to achieve a moderate total caloric intake.

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confidence: 99%

Growth in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

et al. 2012

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“…As previously reported, all patients had developed, to different degrees, the characteristic chorioretinopathy found in patients with LCHAD/MTP deficiency (Fahnehjelm et al 2008). Two of the patients declined to participate due to difficulties connected with traveling to our center.…”

Section: Patientsmentioning

confidence: 69%

“…Two children, presenting with unspecific symptoms at diagnosis, were compound heterozygous for [c.1528G>C]; the others were homozygous. Ocular examinations showed that all patients had moderate retinal changes (Fahnehjelm et al 2008). All children attended regular schools and managed the age-appropriate curriculum, some with individual adjustments regarding the homework load, number of school hours, and participation in physical education.…”

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confidence: 99%

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Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency

et al. 2015

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“…8 Nerve conduction studies should also be included in the follow-up of patients with clinical signs or symptoms of peripheral neuropathy.…”

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Child Neurology: Recurrent rhabdomyolysis due to a fatty acid oxidation disorder

et al. 2014

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Child Neurology: Recurrent rhabdomyolysis due to a fatty acid oxidation disorder Rhabdomyolysis may result from various factors, namely trauma, exercise, medications, infections, endocrine disorders, congenital myopathies, and metabolic diseases.1 Among the latter, mitochondrial fatty acid b-oxidation (FAO) defects frequently cause recurrent rhabdomyolysis. FAO disorders are recessively inherited and have a combined incidence of 1:9,300, estimated after implementation of newborn screening programs by tandem mass spectrometry (MS/MS).2 Clinical manifestations of these disorders range from sudden infant death to Reye-like syndrome, nonketotic hypoglycemia, skeletal myopathy, peripheral neuropathy, and progressive cardiomyopathy. Here, we describe an 18-month-old child presenting with episodes of recurrent rhabdomyolysis related to mitochondrial trifunctional protein deficiency (MTPD), without additional manifestations of FAO defects. We discuss the diagnosis of MTPD and review the prognosis and treatments.CASE REPORT An 18-month-old boy was referred to our pediatric department for evaluation of acute onset of hypotonia, lethargy, and poor feeding. He was the first son of healthy, nonconsanguineous, Caucasian parents; he was born at 39 weeks' gestation after an uncomplicated pregnancy. Delivery and perinatal events were unremarkable. Expanded newborn screening was not performed. At evaluation, physical growth and developmental milestones were normal. On admission, the patient had fever and herpetic gingivostomatitis, which, together with malaise, caused poor feeding. On neurologic examination, he manifested mild appendicular and axial hypotonia, as well as upper limb weakness. Muscular bulk, deep tendon reflexes, and sensation were normal. Cranial nerve examination was normal and the gag reflex was intact bilaterally. The history was negative for trauma and drug ingestion. Laboratory investigations showed elevated serum creatine phosphokinase (CPK) 40,160 U/L (reference values [RV] , 227 U/L), alanine aminotransferase 473 U/L (RV , 35 U/ L), aspartate aminotransferase 1,375 U/L (RV , 45 U/L), myoglobin 10,988 U/L (RV , 70 U/L), and troponin I 0.105 ng/mL (RV 0-0.03 ng/mL). C-reactive protein and erythrocyte sedimentation rate were elevated. Blood gases, glucose, lactate, and ammonium were normal. Thyroid hormones were normal. Testing for infectious agents, including TORCH infections and H1N1 virus on nasal culture and pharyngeal swab, was negative. ECG revealed sinus tachycardia. Chest x-ray, echocardiogram, and abdominal ultrasonography were unremarkable. Blood levels of several hydroxylated and nonhydroxylated very-longchain acylcarnitines (C14:1, C16:1, C16, C16-OH, C18:1, C18:1-OH) were elevated (table). The urine organic acid profile revealed increased excretion of several dicarboxylic and hydroxydicarboxylic acids (table). During the hospitalization, the patient received IV hydration, glucose infusion, and furosemide, as well as IV sodium bicarbonate to prevent myoglobin-induced tubular toxicity and acyclovi...

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Ocular characteristics in 10 children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a cross-sectional study with long-term follow-up

Cited by 8 publications

References 22 publications

Growth in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

Growth in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency

Child Neurology: Recurrent rhabdomyolysis due to a fatty acid oxidation disorder

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