Skip to main content
. 2020 Autumn;14(4):17–28.

Table 3.

Clues for metabolic based autistic features

Coexist symptoms Lab Tests Diagnosis
ASD+Microcephaly
  • HPLC of AA

PKU,Serin deficiency,
ASD +Abnormal Movements+Epilepsy
  • Creatin Pannel

Cerebral creatin Deficiency syndromes
Distinct Syndromic appearence
  • Cholestrol pannel

Smith lemli opitz
Self Mutilation
  • Uric acid

Lesh nyhan syndrome
Coarse Facies +ASD
  • Urin Mucopolysacharides

Sanfilippo
ASD+acidosis
  • Biotine panel

  • Urinary organic acids

  • Lactat

Biotinidase deficienct
Organic academia
Mitochondrial disorders
Lactate pathway
Macrocytic anemia+ASD
  • B12,Folate

MMA
Homocystinuria
Vitamins deficiency