ORNITHINE TRANSCARBAMYLASE DEFICIENCY (OTC)

Question 1

What is  ORNITHINE TRANSCARBAMYLASE DEFICIENCY (OTC)?

Accepted Answer

rare (1:14000 - 1:80000)
X-linked recessive
2 types:
- lethal neonatal

- less severe, late onset

- very late onset have been reported (66, 67, 69 years old)

In female patients with OTCD, metabolic crises can be easily provoked by non-predictable common disorders, such as genetic (private mutations and Lyonisation), crisis after parturition in patients with OTCD and external factors, and sometimes may be fatal [Kido et al. 2017]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Ornithin-Carbamoyltransferase-Mangel; Ornithin-Carbamoyltransferase-Mangel; OTC-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 311250

Question 4

Which enzymes are involved?

Accepted Answer

Ornithine carbamoyltransferase, mitochondrial

Disease	ORNITHINE TRANSCARBAMYLASE DEFICIENCY (OTC)
Synonym	ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY; OTC DEFICIENCY
OMIM	311250 OMIM = Online Mendelian Inheritance of Men
Orphanet	664
Protein (UniProt)	Ornithine carbamoyltransferase, mitochondrial
ExPASy	2.1.3.3
Gene locus	Xp11.4
ICD	E72.4
Summary	rare (1:14000 - 1:80000) X-linked recessive 2 types: - lethal neonatal - less severe, late onset - very late onset have been reported (66, 67, 69 years old) In female patients with OTCD, metabolic crises can be easily provoked by non-predictable common disorders, such as genetic (private mutations and Lyonisation), crisis after parturition in patients with OTCD and external factors, and sometimes may be fatal [Kido et al. 2017]
Laboratory findings	Arginine dec (plasma) Citrulline dec (plasma) Glutamine inc (plasma) Hippuric acid normal/inc (urine) Orotic acid inc (urine) Alanine inc (plasma) Ammonia inc (blood) Asparagine inc (plasma) Glycine inc (urine) Homocitrulline normal/inc (urine) L-Lysine inc (urine) L-Pyroglutamic acid (5-Oxoproline) inc (urine) Ornithine inc (urine) Ornithine dec (plasma) Ornithine transcarbamylase dec (liver) Partial Thromboplastin Time (PTT) inc (blood) Quick dec (blood) Transaminases (ASAT/ALAT) inc (serum) Uracil normal/inc (urine) Urea normal/dec (serum) Uric acid inc (urine) Uridine normal/inc (urine)
Symptoms	respiratory alkalosis ataxia behavior, abnormal or bizarre, confusion cerebral edema Coagulopathy/Coagulation factors coma depression developmental delay Encephalopathic crisis, acute encephalopathy feeding, protein aversion or intolerance hyperemesis gravidarum (maternal) liver failure previous deaths psychosis sex: male > female strokelike episodes temperature instability vomiting episodic course (clinical symptoms) failure to thrive feeding difficulties, poor feeding headache (severe, recurrent or occipital, migraine) hyperammonemia hypothermia hypotonia irritability lethargy, drowsiness, apathy liver involvement or dysfunction mental retardation MRI, brain, white matter abnormalities [-] onset, adolescent onset, adulthood onset, childhood onset, infancy onset, neonatal seizures spastic diplegia/quadriplegia/tetraplegia tachypnea, hyperpnea, dyspnea, hyperventilation white matter changes, abnormalities