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Table 3 Symptoms and signs described in the different BH4 deficiencies

From: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

  PTPSD DHPRD AR-GTPCHD SRD PCDD AD-GTPCHD
Number of reported cases 125 77 55 53 19 570
Nervous system
 Developmental delay +++ +++ +++ +++ + (+)
 (Axial) Hypotonia +++ ++ +++ +++ + (+)
 Poor head control + + + +   (+)
 Hypertonia ++ ++ ++ ++ (+) ++
 Epilepsy ++ +++ + +   
 Cognitive impairment ++ + (+) ++   (+)
 Impaired speech development + (+) (+) +++   (+)
 Dysarthria (+) (+)   +++   (+)
Movement disorders
 Diurnal fluctuation of symptoms    + +++   +++
 Dystonia + + ++ +++   +++
 Oculogyric crises (+) + (+) +++   (+)
 Gait difficulties       +++
 Dyskinesia/other involuntary movements + + (+) +/++   
 Parkinsonism/hypokinesia + (+)/+ + +++   +
 Tremor (+) (+) (+)   (+) +
 Ataxia (+) (+)   +   (+)
Other
 Hyperreflexia (+)/+ +     ++
 Irritability (+)/+ +     
 Microcephaly   ++ (+) (+)   
Autonomous nervous system
 Temperature instability (+) (+) ++ ++   
Gastrointestinal system
 Hypersalivation (+) + ++ +/++   
 Feeding/swallowing difficulties + + (+) ++   (+)
Psychological problems
 Behavioural problems (+) (+)   (+)   
 Psychiatric problems (+) (+)   ++   +
Sleep problems (+) (+)   ++   (+)
Endocrine disturbances
 Growth-hormone deficiency (+)      
 Low birth weight ++      
 Central hypothyroidism     (+)   
 MODY3-like diabetes      +  
Other
 Microcephaly   ++ (+) (+)   
 Fatigability (+) +   (+)   (+)
 Recurrent chest infections +      
 Prematurity + +     
 Hypomagnesemia      +  
  1. Symptoms and signs reported in 570 Patients with AD-GTPCHD, 55 patients with AR-GTPCHD, 125 patients with PTPSD, 77 patients with DHPRD, 53 patients with SRD and 19 patients with PCDD
  2. Very frequently +++ (≥50%), frequently ++ (≥25- < 50%), infrequently + (≥10- < 25%), occasionally (+) (< 10%)