TY  - JOUR
U1  - Wissenschaftlicher Artikel
A1  - Schwahn, Bernd C.
A1  - van Spronsen, Francjan
A1  - Misko, Albert
A1  - Pavaine, Julija
A1  - Holmes, Victoria
A1  - Spiegel, Ronen
A1  - Schwarz, Guenter
A1  - Wong, Flora
A1  - Horman, Alistair
A1  - Pitt, James
A1  - Sass, Jörn Oliver
A1  - Lubout, Charlotte
T1  - Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies
JF  - Journal of Inherited Metabolic Disease
N2  - Sulfite intoxication is the hallmark of four ultrarare disorders that are caused by impaired sulfite oxidase activity due to genetic defects in the synthesis of the molybdenum cofactor or of the apoenzyme sulfite oxidase. Delays on the diagnosis of these disorders are common and have been caused by their unspecific presentation of acute neonatal encephalopathy with high early mortality, followed by the evolution of dystonic cerebral palsy and also by the lack of easily available and reliable diagnostic tests. There is significant variation in survival and in the quality of symptomatic management of affected children. One of the four disorders, molybdenum cofactor deficiency type A (MoCD-A) has recently become amenable to causal treatment with synthetic cPMP (fosdenopterin). The evidence base for the rational use of cPMP is very limited. This prompted the formulation of these clinical guidelines to facilitate diagnosis and support the management of patients. The guidelines were developed by experts in diagnosis and treatment of sulfite intoxication disorders. It reflects expert consensus opinion and evidence from a systematic literature search.
KW  - molybdenum cofactor deficiency
KW  - consensus guidelines
KW  - sulfite oxidase deficiency
KW  - cPMP
KW  - fosdenopterin
Y1  - 2024
UN  - https://nbn-resolving.org/urn:nbn:de:hbz:1044-opus-82853
SN  - 0141-8955
SS  - 0141-8955
U6  - https://doi.org/10.1002/jimd.12730
DO  - https://doi.org/10.1002/jimd.12730
PM  - 38627985
VL  - 47
IS  - 4
SP  - 598
EP  - 623
PB  - Wiley
ER  -