Neonatal screening for biotidinidase deficiency: results of a 1-year pilot study in four cities in central Anatolia.

BACKGROUND: Biotin, a water-soluble vitamin, is used as a co-factor by enzymes involved in carboxylation reactions. It functions as the carboxyl carrier for biotin-dependent carboxylases. These enzymes catalyze gluconeogenesis, fatty acid metabolism and amino acid catabolism, thus biotin plays an essential role in maintaining metabolic homeostasis. Biotinidase deficiency is an inherited metabolic disorder characterized by neurological and cutaneous symptoms, treated by oral administration of the vitamin biotin. In central Anatolia marriages between relatives are very common (26%). INFANTS AND METHODS: We screened 34,378 infants born in four cities in central Anatolia during the one-year period beginning February 2006 for deficiency of the enzyme biotinidase. A simple calorimetric screening procedure was used to detect the presence or absence of biotinidase activity on the same blood-soaked filter paper cards used for screening for phenylketonuria. Positive samples were confirmed with a quantitative method. RESULTS: One newborn infant with partial biotinidase deficiency (10-30% of mean normal serum activity) was identified during the 12-month pilot study. The estimated incidence of partial biotinidase deficiency in central Anatolia is approximately 1:34,378; this ratio was the same in findings from Istanbul (1:33,307). CONCLUSIONS: Like children with profound biotinidase deficiency, children with partial biotinidase deficiency are symptom-free at birth. However, the subsequent occurrence of symptoms of profound biotinidase deficiency in our patient with partial deficiency suggests that biotin therapy for this condition may be warranted. It is known that in Turkey marriages between relatives are common. If the neonatal screening program is widened the real ratio can be determined, where marriages between relatives are very high in central Anatolia.

Enzyme replacement therapy in an infant with Pompe's disease with severe cardiomyopathy.

Pompe's disease is a glycogen storage disease (type II) characterized by inherited autosomal recessive transmission. A 4 month-old girl presented with rapid disease progression, exhibiting severe hypotonia, and hypertrophic cardiomyopathy, progressing to respiratory failure by the age of 9 months. Despite its low incidence, infantile Pompe's disease is lethal. The availability of an effective treatment has created an urgent need to improve knowledge and early diagnosis of this disease. The clinical response is variable from patient to patient with a better effect in patients enrolled earlier. The only clinically available therapy for Pompe's disease is enzyme replacement therapy (ERT). Gene therapy is still not available for Pompe's disease due to lack of suitable vectors for long-term and tissue-specific expression. Recombinant human alpha-glucosidase remains a hope for patients.

Neonatal hypertrichosis in an infant of a diabetic mother with congenital hypothyroidism.

Hypertrichosis in a newborn girl infant of a diabetic mother with congenital hypothyroidism is reported. Both neonatal hyperinsulism and increased testosterone levels were documented. The hypertrichosis resolved after 3 months' of thyroxine replacement treatment. The possible causal association between hypothyroidism, and hypertrichosis has not been previously reported in neonatal period. Thyroid function should be evaluated in all newborn babies with hypertrichosis or abnormal distribution of body hair.