CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY (CPS)

Question 1

What is  CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY (CPS)?

Accepted Answer

rare (1:70000 - 1:100000)
autosomal recessive
mutation in the CPS1 gene
Two forms of CPS1D are recognized:
- lethal neonatal type
- less severe, delayed onset type

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Carbamylphosphat-Synthetase-Mangel (CPS1)

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 237300

Question 4

Which enzymes are involved?

Accepted Answer

Carbamoyl-phosphate synthase [ammonia], mitochondrial

Disease	CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY (CPS)
Synonym	CPS I DEFICIENCY
OMIM	237300 OMIM = Online Mendelian Inheritance of Men
Orphanet	147
Protein (UniProt)	Carbamoyl-phosphate synthase [ammonia], mitochondrial
ExPASy	6.3.4.16
Gene locus	2q34
ICD	E72.2
Summary	rare (1:70000 - 1:100000) autosomal recessive mutation in the CPS1 gene Two forms of CPS1D are recognized: - lethal neonatal type - less severe, delayed onset type
Laboratory findings	Ammonia inc (blood) Arginine dec (plasma) Citrulline dec (plasma) Glutamine inc (plasma) Hippuric acid normal/inc (urine) 3-Methylglutaconic acid inc (urine) Alanine inc (plasma) Carbamylphosphate synthetase dec (liver) Glycine inc (urine) L-Lysine inc (urine) L-Pyroglutamic acid (5-Oxoproline) inc (urine) Orotic acid normal/inc (urine) Partial Thromboplastin Time (PTT) inc (blood) Quick dec (blood) Suberic acid inc (urine) Uracil inc (urine) Urea dec (serum)
Symptoms	coma encephalopathy vomiting developmental delay Encephalopathic crisis, acute failure to thrive feeding difficulties, poor feeding temperature instability ataxia cerebral edema growth retardation, poor growth hyperammonemia hypothermia hypotonia irritability lethargy, drowsiness, apathy mental retardation onset, adolescent onset, adulthood onset, infancy onset, neonatal seizures spastic diplegia/quadriplegia/tetraplegia strokelike episodes tachypnea, hyperpnea, dyspnea, hyperventilation