Pseudohypoaldosteronism Type I, Autosomal Recessive and Dominant Forms

2012 ◽  
Keyword(s):  
Autosomal Recessive ◽  
Type I ◽  
Pseudohypoaldosteronism Type

Pseudohypoaldosteronism Type I, Autosomal Recessive and Dominant Forms

2009 ◽  
pp. 1743-1744
Author(s):  
Markus Braun-Falco ◽  
Henry J. Mankin ◽  
Sharon L. Wenger ◽  
Markus Braun-Falco ◽  
Stephan DiSean Kendall ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Type I ◽  
Pseudohypoaldosteronism Type

scholarly journals Phenotypic variation of autosomal recessive pseudohypoaldosteronism type I: a case in point

2014 ◽  
Vol 2 (6) ◽  
pp. 326-330 ◽  
Author(s):  
Gunjeet Kala Ahluwalia ◽  
Majed Dasouki ◽  
Angela Lennon
Keyword(s):  
Phenotypic Variation ◽  
Autosomal Recessive ◽  
Type I ◽  
Pseudohypoaldosteronism Type

scholarly journals Cardiovascular involvement in alpha-n-acetyl neuraminidase deficiency syndromes (sialidosis type I and II)

2021 ◽  
pp. 1-3
Author(s):  
Priyanka Prasanna ◽  
Chenni S. Sriram ◽  
Sarah H. Rodriguez ◽  
Utkarsh Kohli
Keyword(s):  
Autosomal Recessive ◽  
Ventricular Dysfunction ◽  
Clinical Presentation ◽  
Clinical Course ◽  
Rare Condition ◽  
Autosomal Recessive Disorder ◽  
Left Ventricular ◽  
Type I ◽  
Neonatal Onset ◽  
Cardiovascular Involvement

Abstract Sialidosis, a rare autosomal recessive disorder, is caused by a deficiency of NEU1 encoded enzyme alpha-N-acetyl neuraminidase. We report a premature male with neonatal-onset type II sialidosis which was associated with left ventricular dysfunction. The clinical presentation and subsequent progression which culminated in his untimely death at 16 months of age are succinctly described. Early-onset cardiovascular involvement as noted in this patient is not well characterised. The case report is supplemented by a comprehensive review of the determinants, characteristics, and the clinical course of cardiovascular involvement in this rare condition.

scholarly journals Classical Xanthinuria in Nine Israeli Families and Two Isolated Cases from Germany: Molecular, Biochemical and Population Genetics Aspects

Biomedicines ◽  
2021 ◽  
Vol 9 (7) ◽  
pp. 788
Author(s):  
Hava Peretz ◽  
Ayala Lagziel ◽  
Florian Bittner ◽  
Mustafa Kabha ◽  
Meirav Shtauber-Naamati ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Heterologous Protein ◽  
Heterologous Protein Expression ◽  
Type I ◽  
Type Ii ◽  
Amino Acid Residues ◽  
Cysteine Desulfurase ◽  
Cofactor Binding ◽  
Pathogenic Variants ◽  
Expression Studies

Classical xanthinuria is a rare autosomal recessive metabolic disorder caused by variants in the XDH (type I) or MOCOS (type II) genes. Thirteen Israeli kindred (five Jewish and eight Arab) and two isolated cases from Germany were studied between the years 1997 and 2013. Four and a branch of a fifth of these families were previously described. Here, we reported the demographic, clinical, molecular and biochemical characterizations of the remaining cases. Seven out of 20 affected individuals (35%) presented with xanthinuria-related symptoms of varied severity. Among the 10 distinct variants identified, six were novel: c.449G>T (p.(Cys150Phe)), c.1434G>A (p.(Trp478*)), c.1871C>G (p.(Ser624*)) and c.913del (p.(Leu305fs*1)) in the XDH gene and c.1046C>T (p.(Thr349Ileu)) and c.1771C>T (p.(Pro591Ser)) in the MOCOS gene. Heterologous protein expression studies revealed that the p.Cys150Phe variant within the Fe/S-I cluster-binding site impairs XDH biogenesis, the p.Thr349Ileu variant in the NifS-like domain of MOCOS affects protein stability and cysteine desulfurase activity, while the p.Pro591Ser and a previously described p.Arg776Cys variant in the C-terminal domain affect Molybdenum cofactor binding. Based on the results of haplotype analyses and historical genealogy findings, the potential dispersion of the identified variants is discussed. As far as we are aware, this is the largest cohort of xanthinuria cases described so far, substantially expanding the repertoire of pathogenic variants, characterizing structurally and functionally essential amino acid residues in the XDH and MOCOS proteins and addressing the population genetic aspects of classical xanthinuria.

Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I

10.1038/966 ◽  
1998 ◽  
Vol 19 (3) ◽  
pp. 279-281 ◽  
Author(s):  
David S. Geller ◽  
Juan Rodriguez-Soriano ◽  
Alfredo V. Boado ◽  
Søren Schifter ◽  
Milan Bayer ◽  
...  
Keyword(s):  
Mineralocorticoid Receptor ◽  
Autosomal Dominant ◽  
Receptor Gene ◽  
Type I ◽  
Pseudohypoaldosteronism Type

Hypothesis: A Role for Quinolinic Acid in the Neuropathology of Glutaric Aciduria Type I

1987 ◽  
Vol 14 (S3) ◽  
pp. 441-443 ◽  
Author(s):  
Melvyn P. Heyes
Keyword(s):  
Quinolinic Acid ◽  
Autosomal Recessive ◽  
Glutaric Aciduria Type ◽  
Mass Action ◽  
Type I ◽  
Law Of Mass Action ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type I ◽  
The Central Nervous System ◽  
The Brain

ABSTRACT:Glutaric aciduria type I is an autosomal recessive metabolic disorder of children associated with severe dystonic motor disturbances and degeneration in the cerebral cortex, striatum and cerebellum. Biochemical studies demonstrate a deficiency in the enzyme glutaryl-CoA dehydrogenase. This enzyme metabolizes substrate derived from dietary tryptophan that could otherwise be converted to quinolinic acid within the brain. The law of mass action predicts that the production of quinolinic acid should be increased in glutaric aciduria type I. Quinolinic acid is a potent neurotoxin and convulsant when it is injected into the central nervous system of experimental animals. This paper argues that quinolinic acid may accumulate within the brain and cause the neuropathology of glutaric aciduria type I.

Magnetic resonance imaging findings of adult-onset glutaric aciduria type I

2007 ◽  
Vol 48 (5) ◽  
pp. 557-559 ◽  
Author(s):  
G. Sonmez ◽  
H. Mutlu ◽  
E. Ozturk ◽  
H. O. Sildiroglu ◽  
A. T. Keskin ◽  
...  
Keyword(s):  
Magnetic Resonance ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Glutaric Aciduria Type ◽  
Type I ◽  
Imaging Findings ◽  
Resonance Imaging ◽  
Glutaric Aciduria ◽  
Glutaric Acidemia Type I ◽  
Glutaric Aciduria Type I

Glutaric aciduria or glutaric acidemia type I, an autosomal recessive disease, usually presents with an acute encephalopathic crisis in young children. We report the magnetic resonance (MR) and proton MR spectroscopy (MRS) imaging findings of a previously healthy 20-year-old man who presented with recurrent headaches. Organic acids from the patient's urine contained large amounts of adipate, glutarate, and 3-hydroxyglutarate consistent with glutaric aciduria type I.

Prostaglandin excretion in pseudohypoaldosteronism type I

1986 ◽  
Vol 113 (4_Suppl) ◽  
pp. S381-S385 ◽  
Author(s):  
E.A. WERDER ◽  
W. HILBE ◽  
M.B. VALLOTTON
Keyword(s):  
Urinary Excretion ◽  
Type I ◽  
Dietary Salt ◽  
Basic Defect ◽  
Renal Prostaglandins ◽  
Normal Mean ◽  
Pseudohypoaldosteronism Type

Abstract In an infant with pseudohypoaldosteronism type I increased urinary excretion of PGE2 (1.32 ng/mg creatinine; normal mean ± SE: 0.50 ± 0.10) and PGF2α (6.15 ng/mg creatinine; normal mean ± SE: 2.93 ± 0.91) was found. Prostaglandin excretion as well as the typical hyperkalemia, hyperreninemia and hyperaldosteronism normalized with adequate dietary salt supplementation. An abnormally high excretion of the renal prostaglandins was again present at age 4.4 years when the child was thriving although additional salt was withheld. These abnormalities are considered to be secondary to this condition's basic defect which remains to be elucidated.

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