Clinical approach to inherited metabolic diseases in the neonatal period: a 20-year survey.

Every newborn with unexplained neurological deterioration, ketosis, metabolic acidosis or hypoglycaemia should be suspected of having an inherited error of intermediary metabolism. Many of these conditions can be diagnosed clinically with the aid of simple laboratory investigations. Since a substantial number of these diseases respond well to treatment but may otherwise be fatal, and in order to assure adequate prenatal diagnosis in subsequent pregnancies, a high index of suspicion and rapid diagnosis are necessary in the face of the clinical presentations described.

Hepatic and muscular presentations of carnitine palmitoyl transferase deficiency: two distinct entities.

Human carnitine palmitoyl transferase (CTP) deficiency results in two different clinical variants, one with "hepatic" and one with "muscular" symptoms. We studied CPT activity and long-chain fatty acid oxidation in fibroblast cell lines from four patients, two from each group. Overall CPT activity was deficient in patients' fibroblasts with the hepatic presentation, as previously demonstrated in patients' fibroblasts with the muscular presentation.

Hyperketotic states due to inherited defects of ketolysis.

From the description of 2 unrelated patients with succinyl-CoA transferase (3-OAT) deficiency and 1 patient with acetoacetyl-CoA thiolase (AAT) deficiency, we have attempted to draw the clinical and metabolic consequences of such defects. The association of recurrent attacks of severe ketoacidosis with blood glucose levels generally high or normal, low lactacidemia and low ammonemia is the most common presentation of these disorders. In 3-OAT deficiency, a potentially fatal disorder, there is a permanent ketosis with the only excretion of 3-hydroxybutyrate, acetoacetate and 3-hydroxyisovalerate.

[Heterogeneity of carnitine palmitoyltransferase deficiencies. Deficiency of CPT I in the hepatic form and CPT II in the muscular form].

Carnitine Palmitoyl Transferase (CPT) deficiencies are found in 2 different clinical forms: muscular and hepatic. The study of fibroblasts of 2 patients corresponding to each of these situations showed that these phenotypes are associated with different abnormalities of CPT, CPT I in the hepatic type and CPT II in the muscular type. The functional consequences of both abnormalities are different.

[The phantom mandible].

The authors report a case of "phanton mandible" (phantom bone, disappearing bone, massive osteolysis affecting the mandible), describing the clinical colrse and radiological appearance of the condition. From a diagnosis of non-specific osteitis of the premolar region, they observed their patient until there was virtually total disappearance of the osseous structure of the mandible. Studying the world literature, they have collected 11 cases of the disorder involving the mandible, and, in some cases, the facial skeleton.