FDA Drug Warning - Valproic Acid (trade name Depakote, anticonvulsant) strongly contraindicated in UCD patients.

Hyperammonemic encephalopathy, sometimes fatal, has been reported following initiation of valproate therapy in patients with urea cycle disorders, a group of uncommon genetic abnormalities, particularly ornithine transcarbamylase deficiency. Prior to the initiation of valproate therapy, evaluation for UCD should be considered in the following patients: 1) those with a history of unexplained encephalopathy or coma, encepalopathy associated with a protein load, pregnancy or postpartum encephalopathy unexplained mental retardation, or history of elevated plasma ammonia or glutamine; 2) those with cyclical vomiting and lethargy, episodic extreme irritability, ataxia, low BUN, or protein avoidance; 3) those with a family history of UCD or a family history of unexplained infant deaths (particularly males); 4) those with other signs and symptoms of UCD. Patients who develop symptoms of unexplained hyperammonemic encephalopathy while receiving valproate therapy should receive prompt treatment (including discontinuation of valproate therapy) and be evaluated for underlying urea cycle disorders. For more information, click here.

Corticosteroid & Haloperidol Contraindication: Use of these medications may cause breakdown of body protein and increase plasma ammonia levels.

Sodium Phenylbutyrate for treatment of Urea Cycle Disorders Medication usage warning:  When administered as part of a drug treatment regimen for urea cycle disorders, sodium phenylbutyrate should not be exposed to heat, or mixed or taken with any acidic beverages such as orange juice, lemonade, etc. 

DISORDER DESCRIPTIONS

Ornithine Transcarbamylase Deficiency (OTC)

Carbamyl Phosphate Synthetase Def. (CPS)

Argininosuccinic Acid Synthetase Def. (Citrullinemia)

Argininosuccinate Lyase Deficiency/Argininosuccinic Aciduria (ASA)

Arginase Deficiency 

N-acetylglutamate Synthetase Deficiency (NAGS)

NAGS (NCBI Database)

Hyperammonemia

Urea Cycle Disorders - GeneClinics Review

Urea Cycle Disorders Glossary (pdf)

TREATMENT / MANAGEMENT INFORMATION

The following articles are from Proceedings of a Consensus Conference for the Management of Patients with Urea Cycle Disorders, Supplement to the Journal of Pediatrics, January 2001, Vol 138:

Journal of Pediatrics: Consensus Protocol for Treatment - pdf document

Journal of Pediatrics: Treatment of Neonatal Onset UCD - pdf document

Journal of Pediatrics: Liver Transplantation for UCD - pdf document

LABORATORY/GENETIC TESTING

"I will never forget how much NUCDF helped in diagnosing and management of Baby F., a South Asian baby whom we lost since we could not support him due to lack of resources.
As a paediatrician who treated Baby F. while getting advice from Dr. Batshaw online, I am very much impressed how dedicated are this professional and the members of NUCDF particularly Cindy who offered all possible help and advice in our effort to keep the life of that baby going. Although Baby F. was suffering in a remote corner of this globe, in South Asia, NUCDF was kind enough to reach out to help that little life until he died.
Keep up your excellent job.
Long live NUCDF"

Dr. R - U.K.