Isolated and contiguous glycerol kinase gene disorders: A review

Journal of Inherited Metabolic Disease

Volumn 23, Issue 6, 2000, Pages 529-547

  Sjarif, D R ^a   Ploos Van Amstel, J K ^a   Duran, M ^a   Beemer, F A ^a   Poll The, B T ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCEROL; GLYCEROL KINASE;

ADRENAL DISEASE; ADRENAL INSUFFICIENCY; ALGORITHM; BIOCHEMISTRY; CATABOLISM; CHILD; CHROMOSOME XP; CLINICAL FEATURE; CONGENITAL DISORDER; CONTROLLED STUDY; DEATH; DISEASE CLASSIFICATION; DUCHENNE MUSCULAR DYSTROPHY; ENZYME DEFICIENCY; FEMALE; GENE DELETION; GENE INSERTION; GENE LOCUS; GENETIC DISORDER; GLUCONEOGENESIS; HUMAN; HYPERGLYCEMIA; HYPERTRIGLYCERIDEMIA; HYPOPLASIA; INFANT; KETOGENESIS; MAJOR CLINICAL STUDY; MALE; METABOLIC DISORDER; MISSENSE MUTATION; MOLECULAR GENETICS; NONSENSE MUTATION; PHENOTYPE; REVIEW; SITE DIRECTED MUTAGENESIS; SYMPTOM; X CHROMOSOME RECESSIVE DISORDER;

ADRENAL INSUFFICIENCY; AMINO ACID SEQUENCE; CARBOHYDRATE METABOLISM, INBORN ERRORS; GLYCEROL; GLYCEROL KINASE; HUMANS; INFANT, NEWBORN; LINKAGE (GENETICS); MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHIES; MUTATION; PHENOTYPE; X CHROMOSOME;

EID: 0033807028     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005660826652     Document Type: Review

References (94)

1. Glycerol gluconeogenesis in fasting humans
2. Complex glycerol kinase deficiency: An unusual cause of salt-wasting in males
3. Patient with an Xp21 contiguous gene deletion syndrome in association with agenesis of the corpus callosum
4. Absence of brain Dp140 isoform and cognitive impairment in Becker muscular dystrophy
5. The concordance of X-linked glycerol kinase deficiency with X-linked adrenal hypoplasia in two families
6. Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion
7. Glycerol kinase deficiency in two brothers with and without clinical manifestations
8. The fasting test in paediatrics: Application to the diagnosis of pathological hypo- and hyperketotic states
9. Prenatal diagnosis of glycerol kinase deficiency associated with deletion on the short arm of the X-chromosome
10. Congenital adrenal hypoplasia and selective absence of pituitary luteinizing hormone: A new autosomal recessive syndrome
11. A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation
12. Mapping of glycerol kinase (GK) and congenital adrenal hypoplasia (AHC) between J66-H1 (in DMD locus) and L1 (DXS68)
13. Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia
14. Biochemical characterization of different forms of glycerol kinase deficiency
15. Duchenne muscular dystrophy with adrenal insufficiency and glycerol kinase deficiency: High resolution cytogenetic analysis with molecular, biochemical and clinical studies
16. Glycerol kinase deficiency and adrenal hypoplasia congenita
17. Congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency: Importance of laboratory investigations in delineating a contiguous gene deletion
18. Proof of the 'disease causing' mutation
19. Fine mapping of glycerol kinase deficiency and congenital adrenal hypoplasia within Xp21 on the short arm of the human X chromosome
20. Sindroma de delecion de genes contiguos en Xp-21 (deficit complejo de glicerol-quinasa). Association de distrofia muscular de Duchenne, deficit de glicerol-quinasa e hipoplasia suprarenal congenita
21. Glycerol kinase point mutation in patients with isolated GK deficiency: Possible genotype-phenotype relationship
22. Deletion of the X-chromosome detected by direct DNA analysis in of two unrelated boys with glycerol kinase deficiency, adrenal hypoplasia, and Duchenne muscular dystrophy
23. Deficiency of glycerol kinase (EC 2.7.1.30)
24. Decreased expression of brain beta-dystroglycan in Duchenne muscular dystrophy but not in the mdx animal model
25. A juvenile form of glycerol kinase deficiency with episodic vomiting, acidemia, and stupor
26. Molecular Xp deletion in a male: Suggestion of a locus for hypogonadotropic hypogonadism distal to the glycerol kinase and adrenal hypoplasia loci
27. Pseudohypertriglyceridemia caused by hyperglycerolemia due to congenital enzyme deficiency
28. Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities
29. Genomic scanning for expressed sequences in Xp21 identifies the glycerol kinase gene
30. Proposed assignment of loci for X-linked adrenal hypoplasia and glycerol kinase genes
31. Neurological manifestations of juvenile glycerol kinase deficiency: Improvement with nutritional therapy
32. X-linked glycerol kinase deficiency in the mouse leads to growth retardation, altered fat metabolism, autonomous glucocorticoid secretion and neonatal death
33. The relationship between gluconeogenic substrate supply and glucose production in humans
34. Minipuberty of infancy and adolescent pubertal function in adrenal hypoplasia congenita
35. A case with the infantile type of glycerol kinase deficiency
36. Molecular analysis of the Duchenne muscular dystrophy region using pulsed field gel electrophoresis
37. Family study of isolated glycerol kinase deficiency
38. Congenital adrenal hypoplasia and isolated gonadotropin deficiency
39. Infantile glycerol kinase deficiency - A condition requiring prompt identification. Clinical, biochemical, and morphological findings in two cases
40. New case of contiguous gene syndrome in a Czech boy with glycerol kinase deficiency
41. Isolated glycerol kinase deficiency in a neonatus
42. Characterization of deletions in the dystrophin gene giving mild phenotypes
43. Diagnostic prenatal de l'hypoplasie surrenale liee a 1'X (HS) associee a un deficit en glycerol kinase (GK)
44. Dutrillaux Familial deletion of Xp21.2 with glycerol kinase deficiency and congenital adrenal hypoplasia
45. Complex glycerol kinase deficiency: Molecular genetic, cytogenetic, and clinical studies of five Japanese patients
46. Duchenne/Becker muscular dystrophy: From molecular diagnosis to gene therapy
47. Human glycerol kinase deficiency: An inborn error of compartmental metabolism
48. Disorders of glycerol metabolism
49. Glyceroluria, psychomotor retardation, spasticity, dystrophic myopathy, and osteoporosis in sibship
50. Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria
51. Human glycerol kinase deficiency: Enzyme kinetics and fibroblast hybridization
52. Are Dp41 and Dp140 brain dystrophin isoforms related to cognitive impairment in Duchenne muscular dystrophy?
53. Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism
54. Pseudo-pseudohypertriglyceridemia: A case of increased free glycerol without evidence for glycerol kinase deficiency
55. Congenital adrenal hypoplasia and glycerol kinase deficiency
56. X-linked glycerol kinase, adrenal hypoplasia and myopathy maps at Xp21
57. Congenital adrenal hypoplasia: Clinical spectrum experience with hormonal diagnosis, and report on new point mutations of the DAX-1 gene
58. Adrenal insufficiency, myopathic hypotonia, severe psychomotor retardation, failure to thrive, constipation and bladder ectasia in 2 brothers: Adrenomyodystrophy
59. Negative-configuration spectroretinogram in Oregon eye disease. Consistent phenotype in Xp21 deletion syndrome
60. Liver glycerolkinase deficiency in man with hyperglycerolaemia and hypertriglyceridaemia
61. Are cysteine-rich and COOH-terminal domains of dystrophin critical for sarcolemmal localization?
62. Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency in male sibs
63. Glycerol. Biochemistry, pharmacokinetics and clinical and practical applications
64. Glycerol metabolic defect in a newly identified neuromuscular disease
65. A point mutation in the glycerol kinase gene associated with a deletion in the dystrophin gene in a familial X-linked muscular dystrophy: Non-contiguous gene syndrome involving Becker muscular dystrophy and glycerol kinase loci
66. Evidence for a new X-linked mental retardation gene in Xp21-Xp22: Clinical and molecular data in one family
67. Familial hyperglycerolemia
68. Clinical concepts of Duchenne muscular dystrophy
69. Asthma as the first presenting symptom of complex glycerol kinase deficiency
70. The metabolic consequences of 46, Y del (X) (p21.1-p22.1)
71. Pseudo-hypertriglyceridemie par deficit en glycerol kinase
72. Cloning of the X-linked glycerol kinase deficiency gene and its identification by sequence comparison to the Bacillus subtilis homologue
73. The glycerol kinase gene family: Structure of the Xp gene, and related intronless retroposons
74. Dysmorphic features in patients with complex glycerol kinase deficiency
75. Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency
76. Glyceroluria with adrenocortical insufficiency, development delay and early death
77. Characterisation of a Xp21 microdeletion in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita
78. Negative dystrophin staining in muscles of patients with complex glycerol kinase deficiency
79. Characterization of patients with glycerol kinase deficiency utilizing cDNA probes for the Duchenne muscular dytrophy locus
80. An autopsy case of Duchenne type muscular dystrophy with congenital adrenal hypoplasia
81. Case report. Pseudohypertriglyceridemia
82. The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: An updated protocol
83. Adrenal crisis in the newborn: Details leading to the correct diagnosis
84. A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes
85. Isolation of human Xp21 glycerol kinase gene by positional cloning
86. Mutations and phenotype in isolated glycerol kinase deficiency
87. Regulation of gluconeogenesis by glycerol and its phosphorylated derivatives
88. Glycerol kinase deficiency syndrome explained as X-chromosomal deletion
89. Pseudohypertriglyceridamie bei Glycerokinase Mangel
90. Phenotypic features of patients with congenital adrenal hypoplasia and glycerol kinase deficiency
91. Identification of new markers in Xp21 between DX28(C7) and DMD
92. Rapid molecular cytogenetic analysis of X-chromosomal microdeletions: Fluorescence in situ hybridization (FISH) for complex glycerol kinase deficiency
93. Gonadotropin deficiency as a significant association of complex glycerol kinase deficiency: A case report with cytogenetic and molecular genetic studies
94. Alu Sx insertion in a patient with benign glycerol kinase deficiency