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 Fructose 1,6 diphosphatase deficiency

Clinical Manifestations

Signs & Symptoms

Fasting intolerant

Awkward Uncoordinated Child

Limb Ataxia

Limb ataxia/clumsiness child

Disease Progression

Course/Chronic disorder

Course/Chronic only

Demographics & Risk Factors

Population Group

Child

Population/Pediatrics population

Family History

Family history/Metabolic disease

Family history/Hypoglycemia

Sex & Age Groups

Population/Child

Population/Child-Infant Only

Population/Children/all

Laboratory Tests

Abnormal Lab Findings (Non Measured)

Fasting hypoglycemia (Lab)

Abnormal Lab Findings - Decreased

Glucose, blood (Lab)

Abnormal Lab Findings - Increased

Lactic acid/Lactate (Lab)

Associated Diseases & Rule outs

Associated Disease & Complications

Lactic acidosis

Neurodevelopmental disorders

Primary lactic acidemias

Lactic acidosis kids/primary

Disease Mechanism & Classification

Class

CLASS/Pediatric disorders (ex)

CLASS/Systemic/no comment (category)

Pathophysiology

Pathophysiology/Carbohydrate metabolic disorder

Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)

Process

PROCESS/Enzyme defect/Metabolic disorder (ex)

PROCESS/Hereditofamilial (category)

PROCESS/Metabolic/storage disorder (category)

PROCESS/Organic acidemia metabolic disorder (ex)

Definition

An autosomal recessive fructose metabolism disorder due to absent or deficient fructose-1,6-diphosphatase activity. Gluconeogenesis is impaired, resulting in accumulation of gluconeogenic precursors (e.g., amino acids, lactate, ketones) and manifested as hypoglycemia, ketosis, and lactic acidosis. Episodes in the newborn infant are often lethal. Later episodes are often brought on by fasting and febrile infections. As patients age through early childhood, tolerance to fasting improves and development becomes normal.

(Edit)

External Links Related to Fructose 1,6 diphosphatase deficiency

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.