Disease Information for Molybdenum cofactor deficency

Clinical Manifestations
Signs & Symptoms
Basal ganglion signs
Delayed speech/language development
Development Motor Skills (Milestones) Delayed
Developmental milestones delayed
Hemiplegic Gait
Infant Seizures
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
Population/Pediatrics population
Sex & Age Groups
Population/Child-Infant Only
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
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
Neurodevelopmental disorders
Sulfite oxidase deficiency
Disease Mechanism & Classification
CLASS/Pediatric disorders (ex)
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Lysosome storage disorder (ex)
Pathophysiology/Corpus callosum defect
PROCESS/Aminoacid metabolic disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)

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----------------


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