Literature DB >> 722440

Systemic carnitine deficiency. Report of a fatal case with multisystemic manifestations.

A J Ware, W C Burton, J D McGarry, J F Marks, A G Weinberg.   

Abstract

A 14-year-old boy presented with recurrent and intractable hypoglycemia. He developed marked hepatic dysfunction and a severe myopathy. The diagnosis of systemic carnitine deficiency was not made until after his death from acute cardiac arrest. The recognition that systemic carnitine deficiency may present with multisystemic manifestations may allow earlier diagnosis and potentially effective replacement therapy in other patients so afflicted.

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Year:  1978        PMID： 722440     DOI： 10.1016/s0022-3476(78)81219-0

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  11 in total

1.  Familial carnitine deficiency: further evidence for autosomal recessive transmission with variable expression.

Authors:  E Shahar; N Brand; Y Shapira; V Barash; A Gutman
Journal:  J Neurol Neurosurg Psychiatry       Date:  1988-02       Impact factor: 10.154

2.  [Carnitine deficiency: a treatable cause of cardiomyopathy in children (author's transl)].

Authors:  V Regitz; R J Hodach; A L Shug
Journal:  Klin Wochenschr       Date:  1982-04-15

3.  [Diagnostic significance of muscle biopsies in metabolic myopathies. II. Clinical biochemistry].

Authors:  T Deufel; I Paetzke; D Pongratz; G Hübner; O H Wieland
Journal:  Klin Wochenschr       Date:  1984-07-16

4.  Fatal lipid storage myopathy with deficiency of cytochrome-c-oxidase and carnitine. A contribution to the combined cytochemical-finestructural identification of cytochrome-c-oxidase in longterm frozen muscle.

Authors:  J Müller-Höcker; D Pongratz; T Deufel; J M Trijbels; W Endres; G Hübner
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1983

Review 5.  l-Carnitine. A preliminary review of its pharmacokinetics, and its therapeutic use in ischaemic cardiac disease and primary and secondary carnitine deficiencies in relationship to its role in fatty acid metabolism.

Authors:  K L Goa; R N Brogden
Journal:  Drugs       Date:  1987-07       Impact factor: 9.546

6.  Fat-derived fuels during a 24-hour fast in children.

Authors:  J I Wolfsdorf; A Sadeghi-Nejad; B Senior
Journal:  Eur J Pediatr       Date:  1982-03       Impact factor: 3.183

7.  Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency--diagnosis, plasma carnitine fractions and management in a further patient.

Authors:  R Moore; J F Glasgow; M A Bingham; J A Dodge; R J Pollitt; S E Olpin; B Middleton; K Carpenter
Journal:  Eur J Pediatr       Date:  1993-05       Impact factor: 3.183

8.  Neurological features and computed tomography of the brain in children with ornithine carbamoyl transferase deficiency.

Authors:  B E Kendall; D P Kingsley; J V Leonard; S Lingam; V G Oberholzer
Journal:  J Neurol Neurosurg Psychiatry       Date:  1983-01       Impact factor: 10.154

9.  A hereditary case of lipid storage myopathy with carnitine deficiency. Ultrastructural observation of muscle tissue in parents.

Authors:  G Pellegrini; G Scarlato; M Moggio
Journal:  J Neurol       Date:  1980       Impact factor: 4.849

10.  Plasma and muscle free carnitine deficiency due to renal Fanconi syndrome.

Authors:  I Bernardini; W B Rizzo; M Dalakas; J Bernar; W A Gahl
Journal:  J Clin Invest       Date:  1985-04       Impact factor: 14.808
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