Disease Information for Tetrahydrobiopterin deficiency/Atypical PKU: Disease Mechanism & Classification

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Class
CLASS/Neurologic (category)
Pathophysiology
Pathophysiology/Gene GCH1,PCBD1,PTS,QDPR mutation
Pathophysiology/Gene locus 10q22
Pathophysiology/Gene locus 11q22.3-23.3
Pathophysiology/Gene locus 14q22.1-q22.2
Pathophysiology/Gene locus 5q11.2
Pathophysiology/Gene locus 5q11.2-q13.2
Pathophysiology/Gene locus Chromosome 5
Pathophysiology/Gene locus Chromosome 5q
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Thermoregulatory defect
Pathophysiology/Variable course subsets/severe/mild
Pathophysiology/Pigment dilutional syndrome
Pathophysiology/Brain biosynthesis Catecholamines/Serotonin/NO
Pathophysiology/Neurotransmiiter deficiency entire CNS
Pathophysiology/Phenylalanine accumulates CNS
Pathophysiology/Gene locus 5q11
Process
PROCESS/Aminoacid metabolic disorder (ex)
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Extremely rare disease
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Metabolic/storage disorder (category)
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