|
Number of reported cases
|
11 (this study)
|
169
|
|
Eating disorders/failure to gain weight
| | |
|
Small for gestational age
|
++ [2 Pts]
|
+
|
|
Feeding difficulties, failure to thrive
|
++++ [9 Pts]
|
+++
|
|
Nervous system
| | |
|
Decreased consciousness and/or apnoea
|
++++ [7 Pts]
|
++
|
|
Seizures
|
+++ [5 Pts]
|
+++
|
|
Ataxia
|
−
|
+
|
|
Movement disorder and/or abnormal muscle tone
|
++++ [9 Pts]
|
+++
|
|
Peripheral neuropathy/subacute degeneration of spinal cord
|
(+)
|
++
|
|
Hydrocephalus
|
−
|
++
|
|
Visual impairment (retinopathy, optic atrophy)
|
++++ [9 Pts]
|
+++
|
|
Developmental disorder/cognitive impairment
|
++++ [8 Pts]
|
+++
|
|
Behavioural/mental disorders
|
++ [2 Pts]
|
++
|
|
Microcephaly
|
(+)
|
++
|
|
Blood and bone marrow
| | |
|
Megaloblastic anaemia
|
+++ [5 Pts]
|
++
|
|
Pancytopenia/neutropenia
|
(+)
|
++
|
|
Recurrent severe infections
|
+++ [4 Pts]
|
(+)
|
|
Kidneys
| | |
|
Haemolytic uraemic syndrome
|
++ [2 Pts]
|
++
|
|
Glomerulopathy
|
−
|
+
|
|
Tubulointerstitial nephropathy
|
−
|
+
|
|
Cardiopulmonary
| | |
|
Cardiac malformation
|
++ [2 Pts]
|
+
|
|
Cardiomyopathy
|
(+)
|
++
|
|
Interstitial pneumonia
|
−
|
+
|
|
Pulmonary hypertension
|
−
|
+
|
|
Vascular
| | |
|
Stroke
|
(+)
|
(+)
|
|
Venous thrombosis/embolism
|
(+)
|
+
|
|
Malformations
| | |
|
Facial dysmorphism
|
++ [2 Pts]
|
+
|
|
Skeletal deformity
|
+++ [3 Pts]
|
(+)
|
|
Gastrointestinal
| | |
|
Cheilitis/gastritis
|
(+)
|
−
|
|
Liver steatosis
|
−
|
+
|
|
Skin
| | |
|
Dermatitis/rash/hyperpigmentation
|
−
|
+
|
|
Other
| | |
|
Hydrops foetalis
|
−
|
+
|
|
Metabolic acidosis and/or hyperammonaemia
|
+++ [5 Pts]
|
+
|
|
Temperature instability/hypothermia
|
(+)
|
+
|
