Congenital Metabolic Abnormalities
Early Answers for Complex Inherited Conditions
At KidsHeart Medical Center, we support families facing rare, often hidden metabolic conditions — many of which appear early in infancy or childhood.
These disorders affect how the body breaks down food, produces energy, or removes waste.
Though individually rare, they can have serious effects on the brain, growth, and development if left undiagnosed.
Our Pediatric Neurology team works closely with metabolic specialists across Abu Dhabi, Dubai, and Al Ain — offering timely diagnosis, clear explanations, and coordinated care.
What Are Congenital Metabolic Disorders?
These are inherited conditions where the body lacks specific enzymes or proteins needed for metabolism. The result can be a buildup of toxic substances or a shortage of vital compounds.
Examples include:
- Phenylketonuria (PKU)
- Maple Syrup Urine Disease
- Urea cycle disorders
- Mitochondrial diseases
- Organic acidemias
- Lysosomal storage disorders
These conditions can affect:
- Brain development and cognition
- Muscle tone and coordination
- Feeding and growth
- Behavior or consciousness (in some acute cases)
Symptoms may appear in newborns, or slowly over time in toddlers or young children.
When Should You Consider Metabolic Testing?
Seek a Pediatric Neurology or metabolic evaluation if your child:
- Has developmental delays without a clear cause
- Shows regression after normal milestones
- Has seizures, unusual movements, or loss of consciousness
- Fails to thrive despite normal nutrition
- Has unusual urine odor, frequent vomiting, or low blood sugar episodes
- Has a known family history of metabolic or genetic disease
Metabolic conditions often present subtly — but early testing can make a big difference.
How We Evaluate and Support These Conditions
Here’s how we help families uncover and manage metabolic disorders:
- Detailed Developmental and Family History: We look for patterns in symptoms, growth, feeding, and family traits.
- Physical and Neurological Examination: Helps us assess tone, cognition, and alertness.
- Blood and Urine Metabolic Screening: We test for enzyme levels, toxic substances, and nutrient markers.
- Genetic Testing (if needed): Confirms the diagnosis and guides long-term care.
- Integrated Management Plan: Includes dietary therapy, supplements, emergency protocols, and specialist referrals.
We walk with families — from first suspicion to confident, coordinated care.
Why Families Trust KidsHeart
- Pediatric Neurology team experienced in metabolic conditions
- Early detection through targeted screening and history
- Close coordination with genetics, dietetics, and lab teams
- Supportive, step-by-step guidance through rare diagnoses
- Clinics in Abu Dhabi, Dubai, and Al Ain
Because early clarity is everything — and support shouldn’t wait.
Dr. Azhar Daoud
Consultant & Prof, Pediatric & Child Neurology
Dr. Imad Yassin
Consultant Pediatrician/ Pediatric Neurologist – FRCPCH(UK) | Facharzt, FAMAP, Pediatric Neurology Cert (Austria)
We’re Here to Help.
If your child may have a metabolic condition — or you’re navigating a new diagnosis — we’ll walk you through it.
Frequently Asked Questions (FAQs)
Many are manageable with diet, supplements, or medications. Early diagnosis improves outcomes.
It helps detect some, but not all. Symptoms after birth still need evaluation.
Yes. That’s why they’re often assessed in children with unexplained neurological symptoms.
Most tests use blood and urine samples. Genetic testing may follow if needed.
Some conditions are inherited. We provide family guidance and help with future planning.