Angiokeratoma Corporis Diffusum With Glycopeptiduria due to Deficient Lysosomal a-N-Acetylgalactosaminidase Activity

Kanzaki, Tamotsu

doi:10.1001/archderm.1993.01680250072009

Cited by 31 publications

(14 citation statements)

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“…Although the same deficient activity of lysosomal enzyme was recognized in Kanzaki disease and Schindler disease, 2,5 , 7,8 these two disorders are entirely different in their clinical phenotype. Previously, one case of Kanzaki disease has been described in Japan 1–4,9 , 10 and two familial cases in Spain 11 . We report a further case in detail.…”

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confidence: 73%

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A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Meniere's syndrome and without mental retardation

et al. 2001

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alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency is a rare hereditary lysosomal storage disease, and only three alpha-NAGA-deficient patients with angiokeratoma corporis diffusum (Kanzaki) have been described. We report a further case in a 47-year-old Japanese woman, the product of a consanguineous marriage. The remarkable findings in this patient were her normal intelligence, Ménière's syndrome, disturbance of peripheral sensory nerves, hearing loss and cardiac hypertrophy. alpha-NAGA enzyme activity in her plasma was 0.77% of the normal value. Other enzyme activities, such as alpha-galactosidase, beta-galactosidase, alpha-L-fucosidase, beta-mannosidase and aspartylglucosaminidase, were within normal limits. A large quantity of amino acid O-glycans was detected in her urine. Gene analysis revealed a novel point mutation (G-->A transition) at nucleotide 11018 (986 in the cDNA) resulting in an Arg-329-Gln substitution. Kanzaki disease has the same enzyme defect as Schindler disease, but the manifestations are quite different.

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confidence: 73%

“…For electron microscopy, specimens were fixed in glutaraldehyde (5%), and embedded in Epon 812. Ultrathin sections were contrasted with uranyl acetate–lead citrate 1 …”

Section: Case Reportmentioning

confidence: 99%

A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Meniere's syndrome and without mental retardation

et al. 2001

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“…2 Two years later Kanzaki et al 3,4 reported the second independent case of a-NAGA deficiency with an entirely different clinical phenotype. This patient had a late onset disease with slight facial coarseness, disseminated angiokeratoma and mild intellectual impairment (IQ=70) but without neurological symptoms.…”

Section: Introductionmentioning

confidence: 99%

Human α-N-acetylgalactosaminidase (α-NAGA) deficiency: no association with neuroaxonal dystrophy?

Vreken

et al. 2001

Eur J Hum Genet

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Two new individuals with a-NAGA deficiency are presented. The index patient, 3 years old, has congenital cataract, slight motor retardation and secondary demyelinisation. Screening of his sibs revealed an a-NAGA deficiency in his 7-year-old healthy brother who had no clinical or neurological symptoms. Both sibs are homozygous for the E325K mutation, the same genotype that was found in the most severe form of a-NAGA deficiency presenting as infantile neuroaxonal dystrophy. Thus, at the age of 7 years the same genotype of a-NAGA may present as a`non-disease' (present healthy case) and can be associated with the vegetative state (the first two patients described with a-NAGA deficiency). The clinical heterogeneity among the 11 known individuals with a-NAGA deficiency is extreme, with a`non-disease' (two cases) and infantile neuroaxonal dystrophy (two cases) at the opposite sides of the clinical spectrum. The broad spectrum is completed by a very heterogeneous group of patients with various degrees of epilepsy/behavioural difficulties/psychomotor retardation (four patients) and a mild phenotype in adults without overt neurological manifestations who have angiokeratoma and clear vacuolisation in various cell types (three cases). These observations are difficult to reconcile with a straightforward genotype-phenotype correlation and suggest that factors or genes other than a-NAGA contribute to the clinical heterogeneity of the 11 patients with a-NAGA deficiency.

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“…In fact, multiple angiokeratomas are not only a cutaneous hallmark of Fabry’s disease but can also develop in association with other less common lysosomal storage diseases, such as fucosidosis (α‐L‐fucosidase deficiency), adult‐onset GM 1 gangliosidosis (β‐galactosidase deficiency), galactosialidosis (combined deficiency of β‐galactosidase and sialidase), aspartyl‐glycosaminuria (aspartylglycosaminidase deficiency) and so‐called Kanzaki disease (α‐N‐acetylgalactosaminidase deficiency). 3–6 In addition, widespread angiokeratomas have been reported in association with tuberous sclerosis 7 and have been observed occasionally in otherwise healthy people. 8 Thus, the definite diagnosis of Fabry’s disease requires demonstration of the decreased activity of α‐galactosidase A as well as ultrastructural recognition of the characteristic intracytoplasmic laminated inclusions, which are considered diagnostic, although not pathognomonic, of the disease.…”

Section: Discussionmentioning

confidence: 99%

Angiokeratoma corporis diffusum (Anderson–Fabry’s disease): a case report

Massi

Martinelli

Battini

et al. 2000

Acad Dermatol Venereol

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We report on a 14-year-old boy who presented with a 4-year history of acral pains and febrile episodes. On physical examination, numerous small reddish papules were present on his abdomen, located predominantly on the periumbelical region. Renal function was within normal limits. Ophthalmological examination revealed whorled opacities of the cornea (cornea verticillata) and dilated tortuous conjunctival vessels. Histopathological examination of one of the cutaneous papules showed several dilated blood vessels in the superficial dermis surrounded by collarettes of thickened rete ridges, consistent with a diagnosis of angiokeratoma. The electron-microscopic study of a skin specimen demonstrated the presence of dilated lysosomes with deposition of electron-dense bodies, some of which with laminated structure, in endothelial cells and fibroblasts. These findings were regarded as indicative of Fabry's disease. Subsequent biochemical analysis confirmed the presence of a alpha-galactosidase A deficiency in leukocytes. In conclusion, we described the clinical, histopathological and submicroscopic findings of a case of Fabry's disease, in which the combination of electron microscopic and biochemical approaches allowed the correct diagnosis.

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Angiokeratoma Corporis Diffusum With Glycopeptiduria due to Deficient Lysosomal a-N-Acetylgalactosaminidase Activity

Cited by 31 publications

References 0 publications

A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Meniere's syndrome and without mental retardation

A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Meniere's syndrome and without mental retardation

Human α-N-acetylgalactosaminidase (α-NAGA) deficiency: no association with neuroaxonal dystrophy?

Angiokeratoma corporis diffusum (Anderson–Fabry’s disease): a case report

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