A retrospective ESI‐MS/MS analysis of newborn blood spots from 18 symptomatic patients with organic acid and fatty acid oxidation disorders diagnosed either in infancy or in childhood

Kobayashi, Hironori; Hasegawa, Yuki; Endo, Mitsuru; Purevsuren, Jamiyan; Yamaguchi, Seiji

doi:10.1007/s10545-007-0642-7

Cited by 7 publications

(3 citation statements)

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“…To our knowledge, this is the first report of missed CPT-II deficiency on NBS when the blood sample was appropriately collected on day 2 of life. One prior report of missed CPT-II deficiency on NBS was attributed to the establishment of adequate nutrition by day-of-life 5, when the NBS sample was obtained (Kobayashi et al 2007). However, other reports of missed cases of LCFA oxidation defects, especially VLCAD deficiency (Schymik et al 2006;Ficicioglu et al 2010;Sahai et al 2011), suggest that false-negative NBS results can occur even when blood is appropriately collected on day 2 of life (Ficicioglu et al 2010).…”

Section: Discussionmentioning

confidence: 99%

Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency

et al. 2016

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Carnitine palmitoyltransferase-II (CPT-II) deficiency can be detected through newborn screening with tandem mass spectrometry. We report a 4-year-old patient with rhabdomyolysis due to CPT-II deficiency, which was initially missed by newborn screening. The patient presented with a 2-day history of fevers, upper respiratory infection, diffuse myalgia, and tea-colored urine. Her medical history was notable for frequent diffuse myalgia when ill. She was demonstrated to have homozygous mutation c.338C>T, p. S113L in CPT2, which is typically found in the adult-onset, myopathic form of the disease. An unknown number of CPT-II deficient patients with normal newborn screening have not yet presented to medical care with the adult-onset, myopathic form of disease. We conclude that (1) not all cases of CPT-II deficiency are currently detected through newborn screening, even when blood is appropriately collected on day 2 of life and (2) CPT-II deficiency should be kept on the differential for patients presenting with rhabdomyolysis, even if the newborn screening results were normal.

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Section: Discussionmentioning

confidence: 99%

Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency

et al. 2016

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“…We used urine sample in stable condition from GK01 who is a compound heterozygote of A333P and c.149delC (Fukao et al 1998) and samples in acute and stable conditions from T2-deficient patients from India (GK(Ind)) in our high-risk screening. Blood spot and serum acylcarnitine analysis using tandem mass spectrometry was also done, as described (Kobayashi et al 2007), and blood spot samples from GK75 and GK79, who are R208X homozygotes (Fukao et al 2010b) were used as positive controls.…”

Section: Urinary Organic Acid Analysis and Acylcarnitine Analysismentioning

confidence: 99%

Three Japanese Patients with Beta-Ketothiolase Deficiency Who Share a Mutation, c.431A>C (H144P) in ACAT1

et al. 2011

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Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency affects both isoleucine catabolism and ketone body metabolism. The disorder is characterized by intermittent ketoacidotic episodes. We report three Japanese patients. One patient (GK69) experienced two ketoacidotic episodes at the age of 9 months and 3 years, and no further episodes until the age of 25 years. She had two uncomplicated pregnancies. GK69 was a compound heterozygote of the c.431A>C (H144P) and c.1168T>C (S390P) mutations in T2 (ACAT1) gene. She was not suspected of having T2 deficiency during her childhood, but she was diagnosed as T2 deficient at the age of 25 years by enzyme assay using fibroblasts. The other two patients were identical twin siblings who presented their first ketoacidotic crisis simultaneously at the age of 3 years 4 months. One of them (GK77b) died during the first crisis and the other (GK77) survived. Even during severe crises, C5-OH and C5:1 were within normal ranges in their blood acylcarnitine profiles and trace amounts of tiglylglycine and small amounts of 2-methyl-3-hydroxybutyrate were detected in their urinary organic acid profiles. They were H144P homozygotes. This H144P mutation has retained the highest residual T2 activity in the transient expression analysis of mutant cDNA thus far, while the S390P mutation did not retain any residual T2 activity. The "mild" H144P mutation may result in subtle profiles in blood acylcarnitine and urinary organic acid analyses. T2-deficient patients with "mild" mutations have severe ketoacidotic crises but their chemical phenotypes may be subtle even during acute crises.JIMD Reports

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“…The degree of residual activity of VLCAD affects the onset of the disease and the severity of symptoms. Patients with little residual activity develop myocardial symptoms (hypertrophic cardiomyopathy) and liver symptoms (hypoketotic hypoglycemia-Reye syndrome) during the neonatal period [7], patients with moderate residual activity mainly develop liver and skeletal muscle symptoms (rhabdomyolysis) after infancy [8], and patients with relatively high residual activity mainly develop skeletal muscle symptoms after puberty [9].…”

Section: Discussionmentioning

confidence: 99%

Anesthesia management in a patient with very long-chain acyl-Coenzyme A dehydrogenase deficiency

et al. 2020

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Background In a patient with very long-chain acyl-Coenzyme A dehydrogenase (VLCAD) deficiency, metabolism of fatty acids is impaired and a supply of alternative energy is limited when glucose level is insufficient on starvation. Case presentation A 37-year-old woman with VLCAD deficiency was diagnosed with an ovarian cyst and was scheduled for laparoscopic ovarian cystectomy. Glucose was administered intravenously with the start of fasting. Anesthesia was induced with remifentanil, midazolam, and thiamylal, maintained with desflurane and remifentanil. Body temperature was maintained at 36.2–36.7 °C. During anesthesia, hypoglycemia did not occur, creatine kinase levels were in the normal range, and myoglobinuria was not detected. No shivering was observed after extubation. Conclusions Glucose was administered to avoid perioperative hypoglycemia. Body temperature was controlled to avoid shivering, which would otherwise increase skeletal muscle energy needs. Blood creatine kinase did not increase, and myoglobinuria was not detected; thus, rhabdomyolysis was unlikely to develop.

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A retrospective ESI‐MS/MS analysis of newborn blood spots from 18 symptomatic patients with organic acid and fatty acid oxidation disorders diagnosed either in infancy or in childhood

Cited by 7 publications

References 0 publications

Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency

Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency

Three Japanese Patients with Beta-Ketothiolase Deficiency Who Share a Mutation, c.431A>C (H144P) in ACAT1

Anesthesia management in a patient with very long-chain acyl-Coenzyme A dehydrogenase deficiency

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