Disease Information for Molybdenum cofactor deficency

Ads
Clinical Manifestations
Signs & Symptoms
Hypotonia
Basal ganglion signs
Delayed speech/language development
Development Motor Skills (Milestones) Delayed
Developmental milestones delayed
Dystonia
Hemiplegic Gait
Infant Seizures
Lethargy/torpor
Odd body posturing
Regressing neuromotor/skills child/signs
Seizures Newborn
Slow Motor Development
Tonic posture/stiffening
Crying/Unconsolable crying
Infant peevish/irritable/fretful
Typical Clinical Presentation
Stroke syndrome kids/metabolic causes
Clinical Presentation & Variations
Presentation/Non diabetic Ketoacidosis Kids infants
Presentation/Child Hemiplegia Encephalopathy Dementia Seizures
Disease Progression
Course/Chronic disorder
Course/Chronic only
Seizures unresponsive to treatment
Demographics & Risk Factors
Population Group
Child
Infant
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Infant
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Cultured fibroblast enzyme assay abnormal (Lab)
Enzyme Assay plasma/tissue/fibroblast abnormal
Abnormal Lab Findings - Increased
Hypoxanthine serum level
Xanthine serum level
URINE Xanthine
Diagnostic Test Results
Pathology
BX/Skin fibroblasts enzyme assay abnormal
PATH/Brain corpus callosum lesion/defect
PATh/Leukoencephalopathy cystic/in newborn
CT Scan
CT Scan/Head Brain Abnormality
CT Scan/Head Brain/Corpus callosum hypoplasia/agenesis
CT Scan/Head caudate nucleus lesion
CT Scan/Head Enlarged brain ventricles
CT Scan/Head Ventricular dilatation/normal cortex
MRI/Head Brain Abnormal
MRI/Head corpus callosum/underside lesion
MRI/Head Dilated ventricles
MRI/Head Ventricular enlargement
Associated Diseases & Rule outs
Associated Disease & Complications
Basal gangion lesion/secondary
CNS disease/involvement
Corpus callosum defect/agenesis
Developmental neurologic degeneration/child
Hemiplegia
Neurodevelopmental disorders
Sulfite oxidase deficiency
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Lysosome storage disorder (ex)
Pathophysiology/Corpus callosum defect
Process
PROCESS/Aminoacid metabolic disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
Definition

extremely rare; failure to thrive and unresponsive neonatal seizures; autosomal recessive causes stroke like syndrome in kids; metabolic disorder no homocysteine and low cystine plasma, low plasma urates, ; with high oxypurines and s-sulfocysteine and sulfites in urine; clinically overlaps sulfite dehydrogenase defect; clinically hemiplegia, hypotonia,and dystonia, bilateral basal ganglion changes on image and post; neonatal convulsions; lethal untreated;

imaging by CT and MRI characteristic ventricle dilitation/shape; phenotypic variants with late onset variant; typical lethargy, inconsolable crying, seizure sequence; motor delays; regression language skills, and feedings , irritability sustained; dystonic posturing; more seizures then plateau clinical course; striking MRI brain, also CT; sulfite oxidase activity in cultured fibroblasts abnormal; multicystic leukoencephalopathy with particular abnormal shape of frontal horns of dilated ventricles from atrophy of basal ganglia symmetrically, esp caudate and corpus callosum; intractable seizures perinatal brain damage; This is a co-factor for sulfite oxidase AND xanthine oxidase [blocked converion to uric acid] and aldehyde oxidase; diagnosis is by sulfitest which on chromatography shows s-sulfocystein and urinary isothiosulfates and hypouricemia; cultured fibroblasts assay for Molybdenum cofactor abnormal; Dipstick sulfite test positive after 10 days of age [not before] then ddx sulfite oxidase as uric acid low; MCD synonym; toxic basal ganglion disorder; No real treatment but support; may be tranfer of gene material in future----------------

(Edit)

External Links Related to Molybdenum cofactor deficency
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
Ads