ABSTRACT
The Authors report an exceptional case of Atrophic Malignant Papulosis (P.A.M.) or Degos disease, presenting as acute abdomen with ileal and multiple colic perforations. The disease is due to an occlusive, progressive, thrombotic vascular pathology affecting different parts of the body and may bring to death. Usually this rare disease presents with typical multiple papulous skin lesions, followed by a systemic involvement of the digestive, nervous, and visive tracts. Peritonitis and cerebral infarction are the most frequent causes of death.
Subject(s)
Abdomen, Acute , Colonic Diseases , Ileal Diseases , Intestinal Perforation , Skin Diseases, Papulosquamous , Vasculitis , Abdomen, Acute/diagnosis , Adult , Atrophy , Colonic Diseases/diagnosis , Female , Humans , Ileal Diseases/diagnosis , Intestinal Perforation/diagnosis , Skin Diseases, Papulosquamous/diagnosis , Syndrome , Vasculitis/diagnosisABSTRACT
To assess the relative contribution of glycine and carnitine conjugation pathways to total acyl-group excretion, we investigated the excretion of C6 to C10 dicarboxylic acids, C6 to C8 acylglycines, and C6 to C8 acylcarnitines in five symptom-free patients with medium-chain acyl-coenzyme A dehydrogenase deficiency during sequential 1-week periods as follows: (1) no treatment, (2) oral supplementation with glycine, 250 mg/kg per day, (3) oral supplementation with L-carnitine, 100 mg/kg per day, and (4) oral supplementation with both combined. In untreated patients, acylglycines and acylcarnitines represented 60% and less than 1% of the total metabolite excretion, respectively; the average acylglycine/acylcarnitine ratio was 70:1. Oral supplementation with glycine did not alter the excretion of acylglycines or acylcarnitines. L-Carnitine supplementation increased the acylcarnitine excretion sixfold and caused a 60% reduction in acylglycine excretion (p < 0.001); however, even with carnitine supplementation, acylglycine excretion was still 10 times greater than that of acylcarnitines. The results suggest that glycine conjugation was the major pathway for the disposal of C6 to C8 acyl moieties and that oral L-carnitine supplements may inhibit glycine conjugation. The findings cast doubt on the value of long-term treatment of medium-chain acyl-coenzyme A dehydrogenase deficiency with L-carnitine.
