Hyperammonemic & Urea cycle Disturbances (Early or Late Onset)

Overview

General biochemistry: Partial enzyme deficiencies Specific Urea Cycle Enzymes Argininosuccinic acidemia (ASA) (ASL) SLC25A15 (ORNT1) (Mitochondrial): HHH syndrome Carbamoyl-phosphate Synthetase Deficiency (Mitochondrial) ● CPS1 ; Chromosome 2q34; Recessive Citrullinemia ● Arginosuccinate Synthetase (ASS1) ; Chromosome 9q34.11; Recessive Ornithine Transcarbamylase Deficiency, Hyperammonemia ● Ornithine carbamoyltransferase (OTC) ; Chromosome Xp21.1; X-linked recessive Clinical Intermittent episodes Ataxia Consciousness: Confusion, Lethargy, Vomiting After protein loads Early onset forms: With s

OMIM Entries

External Resources