Imdad S. B. Sardharwalla

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X-linked liver glycogenosis (XLG) is probably the most frequent glycogen-storage disease. XLG can be divided into two subtypes: XLG I, with a deficiency in phosphorylase kinase (PHK) activity in peripheral blood cells and liver; and XLG II, with normal in vitro PHK activity in peripheral blood cells and with variable activity in liver. Both types of XLG are(More)
X-linked phosphorylase kinase (PHK) deficiency causes X-linked liver glycogenosis (XLG) which is the most frequent liver glycogen storage disorder in man. Recently we assigned XLG to the Xp22 chromosomal region by linkage analysis in two families segregating XLG. In this study a further localization of XLG in Xp22 was performed by extending the number of(More)
Prenatal diagnosis of metachromatic leucodystrophy (MLD) is based on demonstrating a deficiency of aryl sulphatase A (ASA) in the fetus. To evaluate the place of chorionic villus sampling for prenatal diagnosis of this condition, the properties of ASA were compared in chorionic villi and cultured skin fibroblasts. Considerable differences with respect to pH(More)
Infantile sialic acid storage disease (ISSD: McKusick 26992) is a rare disorder related to Salla disease (McKusick 26874) and sialuria (McKusick 26992). The disorder is caused by progressive accumulation of free sialic acid within lysosomes due to defective efflux (Renlund et al., 1986). This is probably caused by defective transport across the lysosomal(More)
We describe 2 children with geleophasic dysplasia. Prominent cardiac disease in one of the patients caused death at an early age. The history of consanguinity in one of the families supports autosomal recessive mode of inheritance. Histological and ultrastructural changes suggest that a disturbance in the relations between cell membrane and extracellular(More)
1 De Lobo E, Khan M, Tew J. Community study of hypothyroidism in Down's syndrome. Br Med J 1980;i: 1253. 2 Baxter RC, Larkins RG, Martin FIR, Heyma P, Miles K, Ryan LY. Down's syndrome and thyroid function in adults. Lancet 1975 ;ii :794-6. 3 Whittingham S, Pitt DB, Sharma DL, et al. Stress deficiency of the T lymphocyte system exemplified by Down's(More)
UDP-galactose-4-epimerase (EC is a key enzyme in the metabolic route by which man metabolises galactose to produce glucose. Its absence will impair the continual action of galactose-l-phosphate uridyl transferase as this enzyme depends upon a constant regeneration of UDP-glucose catalysed by the action of epimerase. In addition a lack of endogenous(More)
The children of untreated phenylketonuric women have a significantly higher mortality and morbidity than average. The success of neonatal screening for phenylketonuria (PKU) means that an increasing number of healthy intelligent women with PKU are reaching childbearing age and will create a new therapeutic problem for physicians and obstetricians in the(More)
Marked deficiencies of β-mannosidase activity were demonstrated in plasma, leukocytes, fibroblasts and urine of a patient with β-mannosidosis, similar deficiencies were observed in the proband's sibling. All other lysosomal enzymes measured, including sulphamidase, exhibited normal activity. Both parents showed reduced plasma and leukocyte β-mannosidase(More)