Metabolic Disorder Metabolic Disorder and Degenerative and Degenerative

DisorderDisorder

Metabolic Disorder Metabolic Disorder and Degenerative and Degenerative

DisorderDisorder

Dr Dikki Drajat SpB., SpBADr Dikki Drajat SpB., SpBA

Metabolic disorder• Definition :

A metabolic disorder is any problem in the body that causes loss of metabolic control of the body's steady state (Glanze et al, 1986)

• Insidensi:Jarang

phenylketonuria : < 1 in 12.000

Metabolic DisordersMetabolisme, enzym and Metabolic

Disorders• Metabolisme

Kumpulan proses kimia dimana sel tubuh menggunakan zat nutrisi dari makanan menjadi energi

– Katabolisme :pemecahan molekul besar (e.g. glycogen) molekul kecil(e.g. pyruvic acid)

– Anabolisme: pembangunan , dr molekul kecil (e g. Amino acids) molecules besar (e.g. proteins);

Metabolic Disorders

• Enzym Penting dlm metabolisme, sbg “helpers” (katalisator)

Metabolic processes Metabolic disorder

Growth produce energy eliminate wastes

Maintain homeostasis or a steady state

Disturbance

• Anabolisme

• Katabolisme

Smallmolecules

enzym

Larger molecules

Large molecules Small molecules

Metabolic disorder

• AnabolismeSmall molecules >>Large molecoles deficiency

• KatabolismeLarge molecules >>

Small molecules deficiency

Smallmolecules

enzym

Larger molecules

Large molecules

Small molecules

Metabolic disorder

Genetik dan Biokimiawi Penyakit Metabolisme

• Hpr semua diturunkan scr autosomal recessive

• Defek pada enzimyg penting pd proses metabolisme.

Metabolic disorder

Defek pd enzim

• Toxic level• Defisiensi nutrient

• Gangguan pertumbuhan• Retardasi mental• Koma/kematian

Metabolic Disorder

Manifestasi Klinis : • Asimptomatik• Simptomatik

– Ringan– Berat/ fatal bila tidak dikenali dan ditangani

pada periode neonatal Bila tdk ditangani atau tidak adekuat

retardasi mental, kerusakan neurologik, koma, dan/atau kematian.

Metabolic disorderContoh:• Phenylketonuria : Tdk mampu

memetabolisir a.a. phenylalanine menjadi a.a. tyrosine phenylalanine berlebihan di tubuh dan tyrosine tdk terbentuk

Klinis: Retardation mental, atethosis, hyperaktif, kulit dan rambut lebih terang, mousy odor

Metabolic disorder

DIABETES MELITUS

• Peny metabolik kronik, tubuh tdk mampu menggunakan KH akibat defisiensi insulin

• Meningkatkan Risiko kebutaan, penyakit jantung, gagal ginjal , kelainan nerologis

• Resistensi jaringan thd infeksi rendah dan memperlambat penyembuhan.

• Lebih rentan thd peny periodontal . Dpt disertai dgn kondisi gusi yg mudah berdarah.

Metabolic disorder

• Maple syrup urine diseaseTdk mampu memetabolisir Leucyne, isoleucine

and valine• Urine berbau sirup maple • Vomit, acidosis• Letargis,kejang2, koma, retardasi mental,

kematian

Gangguan metabolik sekunder:• Azotemia (Gagal ginjal):

– uremic odor/foetor uremicum– Lidah kering dan pucat

Metabolic disorder

Diagnosis:– Skrining pd neonatus ( Guthrie test for PKU) – Urinalysis and blood tests. – Kebanyakan dapat terdiagnosa sebelum dws.– Pemeriksaan kromosom

.

Metabolic DisorderTerapi:• diet. • Bersifat individual. • Dikoordinasikan oleh ahli dlm peny.

genetik.• Kebanyakan dpt dikurangi atau dihindari

dgn diagnosis awal dan mempertahankan intervensi diet.

Degenerative disorder

Definition

• Conditions leading to progressive loss of function

• A disease in which the function or structure of the affected tissues or organs changes for the worse over time.

Degenerative disorder

Contoh:

• Osteoarthritis• Osteoporosis• Alzheimer's disease

Degenerative disorderOsteoarthritis Mrpk kerusakan akibat penggunaan sendi

dan terjadi dgn proses penuaan. Dpt terlihat pd semua individu.

Patologi:• Erosi pd permukaan sendi; kartilago sendi

kasar. • Penebalan ligamen sekitar sendi.• Sendi renggang, osteofit

pembengkakan dan pembesaran sendi.

Degenerative disorder

Klinis:

• Inflamasi sendi (kemerahan, hangat, edema dan nyeri).

• Khas : peradangan datang malam saat sendi diistirahatkan

• Nyeri dan inflamasi terjadi dgn pergerakan.

Degenerative disorder

Area terkena:• Sendi extremitas• Temporomandibular joint• Spine

Degenerative disorder

Temporomandibular Disorders The National Institute of Dental and Craniofacial

Research:

• Nyeri myofascial, discomfort at nyeri otot yg mengontrol fungsi rahang dan otot2 leher dan bahu.

• Kerusakan internal sendi – dislokasi sendi rahang, or injuri pd condylus

Degenerative disorderTerapi TMD• Istirahatkan sendi • Analgetika• relaxation techniques and stress management • behavior modification (TMJ: reduce or

eliminate the clenching of the teeth) • physical therapy • Alat orthopaedic atau ‘mouthguard’• Modifikasi diet (istirahatkan otot rahang) • Kompres es atau panas• pembedahan

Degenerative disorder

Alzheimer’s diseasePenyebab tersering dementia pd

usia tua. Dementia : kondisi dimana kerja

otakAD mengenai bag otakyg

mengontrol fikiran,memory dan bahasa

Degenerative disorder

Gejala Klinis:• Sulit mengingat kejadian yg baru, aktivitas atau

nama orang /benda yg sebelumnya dia kenal. Sulit mengerjakan soal matematik yang simpel.

• Lupa mengerjakan pekerjaan simpel spt menyisir rambut, menyikat gigi.

• Tdk bisa berfikir , mulai sulit berbicara, memahami, membaca at menulis. Kmd dpt menjadi gelisah at agresif at pergi meninggalkan rumah.

• Acid Lipase Disease • Amyloidosis • Barth Syndrome ,Carnitine Palitoyl Transferase

Deficiency Type II (CPT-II) • Farber’s Disease ,

G6PD Deficiency (Glucose-6-Phosphate Dehydrogenase)

• Gangliosidoses ,Learning about Trimethylaminuria • Lesch-Nyhan Syndrome • Mitochondrial Myopathiesh • Mitochondrial Myopathies• Mucolipidoses

To understand G6PD deficiency - a type of metabolic disorder - you will first need to know a little about what metabolism is and how enzymes play an essential role in it. Metabolism is a series of chemical processes through which the body uses the

nutrients in food to produce the energy it needs. The body requires energy as fuel to perform its most basic functions:

movement, growth, maintenance of healthy tissues, and removal of wastes. Throughout each day, metabolism involves

thousands of chemical reactions that are necessary for life.Cells produce special substances called enzymes that regulate most chemical reactions in the body. The body needs enzymes

so its metabolism can function properly. A child born with a metabolic disorder usually inherits a genetic mutation - a change in a gene - that creates problems with a particular

enzyme. That enzyme's activity may change or stop completely, altering one of the metabolic pathways that take place in the

body. As a result, a certain key substance, such as a carbohydrate, sugar, fat, or protein, is not processed correctly.

In this way, deficient enzymes affect the body's metabolic balance, which can lead to health problems that are sometimes

serious.

Glucose-6-phosphate dehydrogenase , or G6PD, is just one of the many enzymes that affect cell metabolism. G6PD is produced by red blood cells and helps the body process carbohydrates, turning them into energy