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Article
Developmental expression of hexokinase 1 and 3 in rats
Mammalian hexokinase types one and three (HK1 and HK3) are 100 kDa isozymes that phosphorylate glucose to glucose-6-phosphate. HK1 is present in most tissues but is especially prominent in brain and kidney. H...
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Article
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal
Male to female sex reversal has been observed in individuals with duplications of the short arm of the X chromosome. Here we demonstrate that sex reversal results from the presence of two active copies of an X...
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Article
DNA techniques for screening of inborn errors of metabolism
Molecular genetic techniques are being used increasingly in newborn screening programs. Initial applications involved genotypic confirmation of positive screening tests by DNA microextraction or direct amplifi...
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Chapter and Conference Paper
Role of Porin-Kinase Interactions in Disease
Hexokinase (ATP: D-hexose 6-phosphotransferase, EC2.7.1.1) and glycerol kinase (ATP: glycerol phosphotransferase, EC2.7.1.30) catalyze the phosphorylation of their respective hexose and triose substrates in or...
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Article
The management of breast feeding among infants with phenylketonuria
Treatment for phenylketonuria (PKU) involves using low phenylalanine or phenylalanine-free formulas and supplementation with sufficient phenylalanine for normal growth and development. Eighteen infants with ph...
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Article
Galactosaemia with fatal cerebral oedema
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Article
Biochemical and nutritional status of children with hyperphenylalaninaemia
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Article
Infantile glycerol kinase deficiency— a condition requiring prompt identification
Infantile glycerol kinase deficiency (GKD) is an X-linked genetic disease characterized clinically by adrenal insufficiency and muscular dystrophy. The enzyme defect leads to increased levels of glycerol in bl...
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Article
AN AFFECTED FEMALE CARRIER OF DUCHENNE MUSCULAR DYSTROPHY WITH ASSOCIATED MITRAL VALVE PROLAPSE
Mitral valve prolapse (MVP), cardiomyopathy (CM), and conduction disturbances have been associated with Duchenne muscular dystrophy (DMD), This X-linked disorder characteristically manifests symptoms in males ...
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Article
THE EFFECTS OF PROPIONIC ACIDEMIA ON HEMATOPOIESIS
We evaluated hematopoiesis in a 1 month-old infant with propionic acidemia who presented with pancytopenia. Her bone marrow (BM) showed dysmyelopoiesis and maturation arrest of all cell lines. Numerous mono- a...
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Article
MEASUREMENT OF 2, 3-DIPHOSPBOGLYCERATE (2, 3-DPG) AND ADENOSINE TRIPHOSPHATE (ATP) IN STORED BLOOD BY 31P NUCLEAR MAGNETIC RESONANCE (NMR) SPECTROSCOPY
Adequate levels of ATP and 2,3-DPG in stored blood are important for in vivo survival and oxygen transport of red blood cells after transfusion. 31P NMR spectroscopy allows noninvasive measurement of these compou...
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Article
Human glycerol kinase deficiency: Enzyme kinetics and fibroblast hybridization
Glycerol kinase deficiency has been associated with neuromuscular, skeletal and adrenal abnormalities and has also been seen in individuals without these clinical findings. Examination of residual enzyme activ...
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Article
Zinc status and growth of children undergoing treatment for phenylketonuria
Children with phenylketonuria (PKU) are treated with semi-synthetic diets restricted in phenylalanine. Low-phenylalanine or phenylalanine-free formulae provide the majority of protein and energy in the diet wh...