Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to PYCR1 mutations

2011 ◽  
Vol 155 (9) ◽  
pp. 2331-2332 ◽  
Author(s):  
Dorus Kouwenberg ◽  
Thatjana Gardeitchik ◽  
Ron A Wevers ◽  
Johannes Häberle ◽  
Eva Morava
Keyword(s):  
Autosomal Recessive ◽  
Bone Fractures ◽  
Psychomotor Retardation ◽  
Cutis Laxa ◽  
Common Occurrence

Genotype–phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

2013 ◽  
Vol 110 (3) ◽  
pp. 352-361 ◽  
Author(s):  
Aikaterini Dimopoulou ◽  
Björn Fischer ◽  
Thatjana Gardeitchik ◽  
Phillipe Schröter ◽  
Hülya Kayserili ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Cutis Laxa

Arginase Deficiency Presenting as Cerebral Palsy

PEDIATRICS ◽  
1993 ◽  
Vol 91 (5) ◽  
pp. 995-996
Author(s):  
ANGELA E. SCHEUERLE ◽  
ROBERT MCVIE ◽  
ARTHUR L. BEAUDET ◽  
STUART K. SHAPIRA
Keyword(s):  
Cerebral Palsy ◽  
Autosomal Recessive ◽  
Urea Cycle ◽  
Case Reports ◽  
Growth Failure ◽  
Autosomal Recessive Disorder ◽  
Psychomotor Retardation ◽  
Uncomplicated Pregnancy ◽  
Arginase Deficiency ◽  
Cycle Disorders

Arginase catalyzes the conversion of arginine to ornithine and urea in the final step of the urea cycle. The enzyme deficiency disease, argininemia, is a rare autosomal recessive disorder which presents with progressive psychomotor retardation, growth failure, seizures, and spasticity affecting the lower extremities more than the upper.1 It does not, however, commonly have the severe hyperammonemia seen with other urea cycle disorders.1,2 We describe two unrelated patients, previously thought to have cerebral palsy, who were later found to have arginase deficiency. This suggests that the condition may be underdiagnosed because of its relatively mild symptoms. CASE REPORTS Patient 1, a 9-year-old boy, was born at term after an uncomplicated pregnancy to nonconsanguineous African-American parents.

Autosomal Recessive Cutis Laxa Type 1

2009 ◽  
pp. 196-196
Author(s):  
Hubert Scharnagl ◽  
Winfried März ◽  
Markus Böhm ◽  
Thomas A. Luger ◽  
Federico Fracassi ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Cutis Laxa

scholarly journals ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA

2014 ◽  
Vol 1 ◽  
pp. 203-212 ◽  
Author(s):  
D. Bahena-Bahena ◽  
J. López-Valdez ◽  
K. Raymond ◽  
R. Salinas-Marín ◽  
A. Ortega-García ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Cutis Laxa ◽  
Syndrome Type ◽  
Mexican Mestizo

scholarly journals Autosomal recessive cutis laxa syndrome revisited

2009 ◽  
Vol 17 (9) ◽  
pp. 1099-1110 ◽  
Author(s):  
Éva Morava ◽  
Maïlys Guillard ◽  
Dirk J Lefeber ◽  
Ron A Wevers
Keyword(s):  
Autosomal Recessive ◽  
Cutis Laxa
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