Disease Information for Methemoglobinemia, Hereditary

Ads
Clinical Manifestations
Signs & Symptoms
Acrocyanosis/Cyanosis extremities
Blue lips
Cyanosis
Venipuncture/Chocolate colored blood/sign
Nausea
Vomiting
Blue Tongue
Altered mental status Mental status change
Confusion/agitation on exam
Confusion/Disoriented
Headache
Irritability/short tempered
Obtunded/poorly responsive status/signs
Seizures
Stupor/poor reponse to stimulus
Sudden unconsciousness
Unconscious/Narcosis status
Cyanosis Child
Cyanosis Newborn
Hyperpnea
Rapid Breathing
Shortness of breath/SOB
Sudden onset dyspnea
Tachypnea/Increased respiratory rate
Typical Clinical Presentation
Coma with normal Head CT Scan
Cyanotic with normal AO2/O2 Sat
Clinical Presentation & Variations
Presentation/Collapse Seizure Acidosis Anaerobic
Disease Progression
Course/Acute
Course/Chronic disorder
Course/Subacute
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Hemoglobin oxygen dissociation curve/abnormal (Lab)
Abnormal Lab Findings - Increased
Hematocrit (Lab)
Methemoglobin (Lab)
URINE Methemoglobin
Diagnostic Test Results
CT Scan
CT Scan/Head Calcified Basal ganglia
X-RAY
Xray/Basal ganglia calcification/Skull
Xray/Multiple intracranial calcifications/Head
Ultrasound
Ultrasound/Renal/Kidneys echogenic cortex bilateral
Associated Diseases & Rule outs
Rule Outs
Anemia
Hypoxia, systemic
Associated Disease & Complications
Angina pectoris
Cardiac arrhythmias
Coma/Unconscious
Convulsions (grand mal)
Death/Unanticipated
Methemoglobinemia
Polycythemia
Polycythemia (compensatory)/secondary/anoxia
Disease Mechanism & Classification
Class
CLASS/Erythrocyte disorder (ex)
CLASS/Hematologic (category)
Pathophysiology
Pathophysiology/Hemoglobin, high-affinity status
Pathophysiology/Tissue hypoxia/potential
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Biochemical (category)
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Hemoglobinopathy disorder (ex)
Toxin
TOXIN/Cellular hypoxia oxidative/hgb release
Treatment
Drug Therapy - Contraindication
RX/Methylene blue
Drug Therapy - Indication
RX/Methylene blue
Definition

The presence of methemoglobin in the blood, resulting in cyanosis. A small amount of methemoglobin is present in the blood normally, but injury or toxic agents convert a larger proportion of hemoglobin into methemoglobin, which does not function reversibly as an oxygen carrier. Methemoglobinemia may be due to a defect in the enzyme NADH methemoglobin reductase (an autosomal recessive trait) or to an abnormality in hemoglobin M (an autosomal dominant trait). (Dorland, 27th ed)

(Edit)

External Links Related to Methemoglobinemia, Hereditary
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
Ads