Infantile form of muscle phosphofructokinase deficiency in a premature neonate

2015 ◽  
Vol 57 (4) ◽  
pp. 746-749 ◽  
Author(s):  
Pei-Ling Wu ◽  
Yung-Ning Yang ◽  
Shu-Leei Tey ◽  
Chun-Hwa Yang ◽  
San-Nan Yang ◽  
...  
Keyword(s):  
Premature Neonate ◽  
Infantile Form ◽  
Phosphofructokinase Deficiency

Fatal infantile form of muscle phosphofructokinase deficiency

Neurology ◽  
1986 ◽  
Vol 36 (11) ◽  
pp. 1465-1465 ◽  
Author(s):  
S. Servidei ◽  
E. Bonilla ◽  
R. G. Diedrich ◽  
M. Kornfeld ◽  
J. D. Oates ◽  
...  
Keyword(s):  
Infantile Form ◽  
Phosphofructokinase Deficiency

Jansky-Bielschowsky syndrome, a lysosomal disease: First diagnosed cash in Oman

1992 ◽  
Vol 50 (1) ◽  
pp. 632-633
Author(s):  
Line Buhl ◽  
David Muirhead
Keyword(s):  
Mental Retardation ◽  
Clinical Picture ◽  
Neurological Disorder ◽  
Clinical Presentation ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Infantile Form ◽  
Lysosomal Disease ◽  
Juvenile Form ◽  
Progressive Encephalopathy ◽  
Lysosomal Diseases

There are four lysosomal diseases of which the neuronal ceroid lipofuscinosis is the rarest. The clinical presentation and their characteric abnormal ultrastructure subdivide them into four types. These are known as the Infantile form (Santavuori-Haltia), Late infantile form (Jansky-Bielschowsky), Juvenile form (Batten-Spielmeyer-Voght) and the Adult form (Kuph's).An 8 year old Omani girl presented wth myclonic jerks since the age of 4 years, with progressive encephalopathy, mental retardation, ataxia and loss of vision. An ophthalmoscopy was performed followed by rectal suction biopsies (fig. 1). A previous sibling had died of an undiagnosed neurological disorder with a similar clinical picture.

scholarly journals A "G" to "A" mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs disease.

1990 ◽  
Vol 265 (13) ◽  
pp. 7324-7330 ◽  
Author(s):  
S Akli ◽  
J Chelly ◽  
C Mezard ◽  
S Gandy ◽  
A Kahn ◽  
...  
Keyword(s):  
Splice Site ◽  
Infantile Form ◽  
Tay Sachs Disease

Two patients from Turkey with a novel variant in the GM2A gene and review of the literature

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Aslı İnci ◽  
Filiz Başak Cengiz Ergin ◽  
Gürsel Biberoğlu ◽  
İlyas Okur ◽  
Fatih Süheyl Ezgü ◽  
...  
Keyword(s):  
Sandhoff Disease ◽  
Pathogenic Variant ◽  
Protein Deficiency ◽  
Gm2 Gangliosidosis ◽  
Infantile Form ◽  
Rare Form ◽  
Inborn Errors ◽  
Activator Protein ◽  
Gm2 Activator ◽  
Gm2 Activator Protein

Abstract Objectives GM2 gangliosidosis is a rare form of inborn errors of metabolism including Tay-Sachs disease, Sandhoff disease, and GM2 activator deficiency. GM2 activator protein deficiency is an ultra-rare form of GM2 gangliosidosis. To date, 16 cases of GM2 activator protein deficiency have been reported in the literature, and among them, 11 cases were the infantile form of the disease. Here we report the first two patients from Turkey with the infantile form of the disease with a novel likely pathogenic variant. Case presentation A boy of eight months old presented to the metabolic department with very mild neurological deterioration, although he had achieved early developmental milestones at the appropriate time. The parents also had a daughter who had lost skills progressively before one year of age. The boy was evaluated and bilateral cherry-red spots were found with no abnormality in either metabolic screening including β-hexosaminidase or cranial magnetic resonance imaging. A novel homozygous likely pathogenic variant in GM2A was detected in a next-generation sequence panel revealing GM2 activator protein deficiency. His sister was investigated after he was diagnosed with GM2 activator deficiency and it was found that she had the same variant as her brother. Conclusions This case report emphasizes that in the event of normal β-hexosaminidase activity, GM2 activator protein deficiency could be underdiagnosed, and further molecular analysis should be performed. To the best of our knowledge, this boy is one of the youngest patient diagnosed with very mild symptoms. With this novel pathogenic variant, these patients have expanded the mutation spectrum of GM2 activator protein deficiency.

Autosomal recessive inherited phosphofructokinase deficiency in English springer spaniel dogs

1986 ◽  
Vol 17 (1) ◽  
pp. 15-23 ◽  
Author(s):  
U. GIGER ◽  
M. P. REILLY ◽  
T. ASAKURA ◽  
C. J. BALDWIN ◽  
J. W. HARVEY
Keyword(s):  
Autosomal Recessive ◽  
Phosphofructokinase Deficiency

Altered levels of tissue gangliosides and glycoproteins in the infantile form of GM1-gangliosidosis

1974 ◽  
Vol 57 (3) ◽  
pp. 301-306 ◽  
Author(s):  
Bruno Berra ◽  
Sylvia Di Palma ◽  
Eric G. Brunngraber
Keyword(s):  
Infantile Form ◽  
Gm1 Gangliosidosis

scholarly journals A Lethal Case ofSphingomonas paucimobilisBacteremia in an Immunocompromised Patient

2016 ◽  
Vol 2016 ◽  
pp. 1-4 ◽  
Author(s):  
Nata Pratama Hardjo Lugito ◽  
Cucunawangsih ◽  
Andree Kurniawan
Keyword(s):  
Septic Shock ◽  
Foot Ulcer ◽  
Diabetic Foot Ulcer ◽  
Severe Infection ◽  
Venous Catheter ◽  
Multidrug Resistant ◽  
Premature Neonate ◽  
Hospital Environment ◽  
Indwelling Catheters ◽  
Stage Renal Disease

Sphingomonas paucimobilisis a yellow-pigmented, glucose nonfermenting, aerobic, Gram negative bacillus of low pathogenicity. This organism was found in the implantation of indwelling catheters, sterile intravenous fluid, or contaminated hospital environment such as tap and distilled water, nebulizer, ventilator, and hemodialysis device. A 55-year-old female was hospitalized for diabetic foot ulcer in the presence of multiple comorbidities: diabetes mellitus, colonic tuberculosis, end-stage renal disease, and indwelling catheters for central venous catheter and hemodialysis. The patient passed away on the 44th day of admission due to septic shock. The organism found on blood culture on the 29th day of admission was multidrug resistantS. paucimobilis. Severe infection and septic shock due toS. paucimobilishave been reported particularly in immunocompromised patients, but there has been only one reported case of death in a premature neonate with septic shock. This is the first reported lethal case ofS. paucimobilisbacteremia in an adult patient.

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