Differential Diagnosis
Diseases
Drugs
More
[+] Tips
- Try building your search one term at a time, and be as specific as you can! Search term example: "chronic cough".
- Do not enter multiple findings such as "anemia, chronic cough, weight loss, vomiting" all at the same time.
- After selecting your term from the search results a list of possible diagnoses will be generated. If the list is too long, you will be able to narrow it down by entering additional terms.
- Do not enter values such as "heart rhythm 110" or "sodium 125", instead use "tachycardia" or "hyponatremia".

Disease Information for Proprionic acidemia/congenital

Clinical Manifestations

Signs & Symptoms

Awkward Uncoordinated Child

Delayed speech/language development

Development Motor Skills (Milestones) Delayed

Infant Seizures

Limb Ataxia

Limb ataxia/clumsiness child

Seizures/Children/recurrent

Disease Progression

Course/Chronic disorder

Course/Chronic only

Demographics & Risk Factors

Population Group

Child

Population/Pediatrics population

Sex & Age Groups

Population/Child

Population/Child-Infant Only

Population/Children/all

Laboratory Tests

Abnormal Lab Findings (Non Measured)

Neonatal metabolic screening (mass spec) abnormal

Newborn screening tests abnormal (extended)

Abnormal Lab Findings - Increased

Anion gap (Lab)

pH, arterial blood (Lab)

Associated Diseases & Rule outs

Associated Disease & Complications

Acidosis

Acidosis, metabolic

Hypochloremic metabolic alkalosis

Hypoglycemia

Hypoglycemia, infantile

Metabolic Acidosis with High Anion Gap

Proprionic acidemia/congenital

Thrombocytopenia

Thrombocytopenia in Children

Disease Mechanism & Classification

Class

CLASS/Pediatric disorders (ex)

Pathophysiology

Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)

Pathophysiology/Urea cycle metabolic defect

Process

PROCESS/Enzyme defect/Metabolic disorder (ex)

PROCESS/Hereditofamilial (category)

PROCESS/INCIDENCE/Rare disease (ex)

PROCESS/Ketotic hypergycemia syndromes

PROCESS/Metabolic/storage disorder (category)

PROCESS/Organic acidemia metabolic disorder (ex)

Definition

Acidemia, Propionic;Hyperglycinemia with Ketoacidosis and Lactic Acidosis, Propionic Type;Ketotic Glycinemia

PCC Deficiency;Propionyl CoA Carboxylase Deficiency.

Disorder Subdivisions:Propionic Acidemia, Type I (PCCA Deficiency)and Propionic Acidemia, Type II (PCCB Deficiency); Propionic Acidemia is a rare metabolic disorder characterized by deficiency of propionyl CoA carboxylase, an enzyme involved in the breakdown (catabolism) of the chemical "building blocks" (amino acids) of certain proteins; Symptoms most commonly become apparent during the first weeks of life and may include abnormally diminished muscle tone (hypotonia), poor feeding, vomiting, listlessness (lethargy), excessive loss of fluids from bodily tissues (dehydration), and episodes of uncontrolled electrical activity in the brain (seizures); Without appropriate treatment, coma and potentially life-threatening complications may result; In rare cases, the condition may become apparent later during infancy and may be associated with less severe symptoms and findings; Propionic Acidemia is inherited as an autosomal recessive trait [NORD 2005]

(Edit)

External Links Related to Proprionic acidemia/congenital

PubMed (National Library of Medicine)

NGC (National Guideline Clearinghouse)

Medscape (eMedicine)

Harrison's Online (accessmedicine)

NEJM (The New England Journal of Medicine)

Ads

This site is designed primarily as a reminder system for use by qualified physicians and other medical professionals. By using this site you understand and accept that DiagnosisPro.com shall not be used as a diagnostic decision-making system and must not be used to make a clinical diagnosis or replace or overrule a licensed health care professional's judgment or clinical diagnosis (full terms of use). This site complies with the HONcode standard for trustworthy health information: verify here.