1159 diagnosis, treatment and follow up of neonatal arginosuccinic acidemia

Nature

1159 diagnosis, treatment and follow up of neonatal arginosuccinic acidemia"


Play all audios:

Loading...

ABSTRACT Argininosuccinic acidemia is an autosomal recessive disorder of the urea cycle caused by argininosuccinase deficiency. A 2 day old male developed seizures and respiratory distress,


EEG showed status epilepticus pattern, and at 4 days of age he lapsed into coma. Blood amonia was 1800 μg/dl (normal 10-150), blood amino acids revealed argininosuccinic acid (ASA) 196.98


μmol/dl and anhydro ASA 174.12 μmol/dl. Urine ASA was 34.7 Gm/Gm creatinine and anhydro ASA was 39.5 Gm/Gm creatinine. A micro assay for argininosuccinase was developed, which showed no


dectable activity in patient's RBC's while a control sample released 2.77 μmol (± 0.63) of ornithine/h/ml of whole blood.Treatment with exchange transufions and peritoneal dialysis


reduced blood ammonia only slightly to 1100 μg/dl. Dramatic reduction of ammonia to 300 μg/dl occurred 24 h after intravenous therapy with 4 mM/Kg/day of arginine hydrochloride and 250


mg/Kg/day of sodium benzoate. The baby improved and his EEG became normal. At 9 months, the baby's height, weight, and head circumference are within the 50th percentile. Frequent


developmental assesments have been within the normal range. Currently the baby is on 1.7 Gm/Kg of protein with arginine supplementation of 1 mM to 4 mM/Kg/day depending on the blood arginine


levels. A biochemical and enzymic diagnosis of argininosuccinic acidemia can be made in the newborn period. Arginine therapy is superior to other forms of treatment in preventing


hyperammonemia and neurological damage. ARTICLE PDF AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Depts. of Pediatrics, Univ. of Ill., Chicago, Ill. Reuben Matalon, Kimberlee Michals, Steven


Gross, Mark L Batshaw & Saul W Brusllow * Johns Hopkins School of Medicine, Baltimore, Md. Reuben Matalon, Kimberlee Michals, Steven Gross, Mark L Batshaw & Saul W Brusllow Authors


* Reuben Matalon View author publications You can also search for this author inPubMed Google Scholar * Kimberlee Michals View author publications You can also search for this author


inPubMed Google Scholar * Steven Gross View author publications You can also search for this author inPubMed Google Scholar * Mark L Batshaw View author publications You can also search for


this author inPubMed Google Scholar * Saul W Brusllow View author publications You can also search for this author inPubMed Google Scholar RIGHTS AND PERMISSIONS Reprints and permissions


ABOUT THIS ARTICLE CITE THIS ARTICLE Matalon, R., Michals, K., Gross, S. _et al._ 1159 DIAGNOSIS, TREATMENT AND FOLLOW UP OF NEONATAL ARGINOSUCCINIC ACIDEMIA. _Pediatr Res_ 15 (Suppl 4), 636


(1981). https://doi.org/10.1203/00006450-198104001-01185 Download citation * Issue Date: 01 April 1981 * DOI: https://doi.org/10.1203/00006450-198104001-01185 SHARE THIS ARTICLE Anyone you


share the following link with will be able to read this content: Get shareable link Sorry, a shareable link is not currently available for this article. Copy to clipboard Provided by the


Springer Nature SharedIt content-sharing initiative


Trending News

Eons | the world before plate tectonics | season 3 | episode 10

(host) Around two billion years ago, Earth was a very different place. Pretty much everything was more extreme than it i...

Doctors are treating dilip kumar for kidney problems, says hospital

The legendary actor was hospitalised after he complained of dehydration. Veteran actor Dilip Kumar's kidneys are no...

Iim jammu introduces 5-year ipm programme

Excelsior Correspondent JAMMU, Mar 30: Indian Institute of Management (IIM) Jammu has introduced Integrated Programme in...

Army surgeon saves military working dog's life

Memorial Day Sale! Join AARP for just $11 per year with a 5-year membership Join now and get a FREE gift. Expires 6/4  G...

404 - Page not found

Skip to main contentGet appSubscribeVideoPodcastLong FormSubscriber Only#FightToBreatheExplainersहिन्दीSubscribeNL SenaM...

Latests News

1159 diagnosis, treatment and follow up of neonatal arginosuccinic acidemia

ABSTRACT Argininosuccinic acidemia is an autosomal recessive disorder of the urea cycle caused by argininosuccinase defi...

Usc won't be seen on tv in fall

USC has given up its fight to get its football games on live television during the 1985 season. The school will serve th...

Caucasus news, research and analysis - the conversation

June 28, 2024 Joel Rookwood, _University College Dublin_ Georgia’s football team has surpassed expectations as political...

Page not found

Loading......

Freeform fabrication | Nature Physics

Access through your institution Buy or subscribe Although a ray picture from an optics textbook is often the first thing...

Top