Pulmonary hypertension associated with nonketotic hyperglycinaemia

• Published in: Journal of inherited metabolic disease Vol. 23; no. 2; pp. 137 - 144
• Main Authors: Çataltepe, S., Marter, L. J., Kozakewich, H., Wessel, D. L., Lee, P. J., Levy, H. L.
• Format: Journal Article
• Language: English
• Published: Dordrecht Kluwer Academic Publishers 01-03-2000; Springer; Blackwell Publishing Ltd
• Subjects: Amino Acid Metabolism, Inborn Errors - complications; Amino Acid Metabolism, Inborn Errors - therapy; Biological and medical sciences; Bronchoalveolar Lavage Fluid - cytology; Carbohydrates (enzymatic deficiencies). Glycogenosis; Child; Child, Preschool; Errors of metabolism; Fatal Outcome; Glycine - blood; Humans; Hypertension, Pulmonary - complications; Hypertension, Pulmonary - pathology; Hypertension, Pulmonary - therapy; Infant, Newborn; Male; Medical sciences; Metabolic diseases; Human; Nervous system diseases; Respiratory disease; Cardiovascular disease; Metabolic diseases; Infant; Enzymopathy; Pulmonary hypertension; Genetic disease; Case study; Association; Newborn; Hyperglycinemia; Complication; Child; Aminoacid disorder
• ISSN: 0141-8955; 1573-2665
• DOI: 10.1023/A:1005613715351

Nonketotic hyperglycinaemia (NKH) is an autosomal recessive disorder characterized by defective glycine degradation by the mitochondrial glycine cleavage system. The clinical features include lethargy, hypotonia, apnoea, seizures and severe psychomotor retardation, all attributed to the accumulation of glycine in the nervous system. Pulmonary hypertension (PHN) has not been reported in NKH. We describe four patients with NKH who had PHN in addition to the characteristic manifestations of NKH. This newly recognized association might provide additional insight into the underlying pathophysiology of PHN.