Biomedical subjects

H Ergin

Publications and source records attributed to H Ergin.

21 records · Page 2Linked to original sources

PubMedDate not supplied

Nonketotic hyperglycinemia in a newborn infant.

A neonate with nonketotic hyperglycinemia who experienced apnea, hiccups and tonic-clonic seizures on the first day of life is reported. The physical findings and laboratory tests including arterial blood gases were normal. However, serial blood and CSF amino-acid analyses demonstrated elevated glycine levels. Serum and CSF glycine levels were 1949 mumol/L and 415.5 mumol/L, respectively. (Normal serum level is 104-254 mumol/L and CSF level is 5 +/- 2 mumol/L). The CSF/plasma glycine ratio was 0.11. Oral sodium benzoate and folic acid therapy was initiated. After two weeks of assisted ventilation and clinical improvement, the patient was discharged with a protein-restricted diet.

Amino Acid Metabolism, Inborn Errors↗

PubMedDate not supplied

Neonatal form of hypophosphatasia. A case report.

Hypophosphatasia is a rare (1/100,000), inherited inborn error of metabolism characterized by low serum and tissue alkaline phosphatase activities resulting in skeletal abnormalities. Four clinical forms are recognized depending on the age of diagnosis. Since treatment is not available and the prognosis is always lethal, detection of index cases and prenatal diagnosis is subsequent pregnancies is very important. Here we report a case with the most severe form of hypophosphatasia associated with lung hypoplasia.

Abnormalities, Multiple↗

PubMedDate not supplied

Netherton's syndrome and neonatal hypernatremia. A case report.

Netherton's syndrome is characterized by ichthyosiform desquamation, bamboo hair and often atopic diathesis. It is transmitted as an autosomal-recessive trait. In this paper we report a baby with Netherton's syndrome who developed hypernatremia during the neonatal period. This complication should be remembered in erythrodermic infants as a preventable cause of neonatal morbidity.

Fatal Outcome↗