Overview
Disorder of zinc metabolism and transport is a group of rare conditions in which the body cannot properly absorb, distribute, or use zinc. Zinc is an essential mineral that plays a vital role in immune function, wound healing, growth, skin health, and many enzyme processes throughout the body. When zinc metabolism or transport is disrupted, it can lead to a wide range of symptoms affecting the skin, immune system, growth, and overall development. The most well-known condition in this group is acrodermatitis enteropathica, a genetic disorder where the body cannot absorb zinc properly from the intestines. Symptoms typically appear in infancy, often after weaning from breast milk, and include skin rashes (especially around the mouth, hands, feet, and diaper area), chronic diarrhea, hair loss, and frequent infections due to a weakened immune system. Without treatment, the condition can be life-threatening. Other disorders in this group may involve problems with zinc transporters in different tissues, leading to variable symptoms. The good news is that many of these conditions respond well to zinc supplementation. When diagnosed early and treated consistently, most patients can lead healthy lives. However, lifelong treatment and monitoring are usually necessary to prevent symptoms from returning. The treatment landscape primarily revolves around oral zinc supplements, with doses adjusted based on blood zinc levels and clinical response.
Key symptoms:
Skin rash around the mouth, hands, feet, and diaper areaChronic diarrheaHair loss or thinning hairFrequent infectionsPoor wound healingGrowth delay in childrenIrritability and mood changesLoss of appetiteNail abnormalities or ridged nailsEye inflammation or light sensitivityBlistering or crusting skin lesionsWeight loss or failure to thriveDelayed puberty
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Disorder of zinc metabolism and transport.
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Specialists
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Disorder of zinc metabolism and transport.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific type of zinc metabolism disorder does my child or I have, and which gene is affected?,What is the correct dose of zinc supplement, and how often should it be taken?,How often should blood zinc levels be checked?,What symptoms should prompt me to seek urgent medical care?,Are there any side effects of long-term zinc supplementation I should watch for?,Should other family members be tested for this condition?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about Disorder of zinc metabolism and transport
What is Disorder of zinc metabolism and transport?
Disorder of zinc metabolism and transport is a group of rare conditions in which the body cannot properly absorb, distribute, or use zinc. Zinc is an essential mineral that plays a vital role in immune function, wound healing, growth, skin health, and many enzyme processes throughout the body. When zinc metabolism or transport is disrupted, it can lead to a wide range of symptoms affecting the skin, immune system, growth, and overall development. The most well-known condition in this group is acrodermatitis enteropathica, a genetic disorder where the body cannot absorb zinc properly from the